568:) in the NTF3 gene which, while not necessarily involved in the patients' AIS itself, was involved in the severity of the scoliosis itself. Patients who were homozygous for the A allele (AA genotype) tended to have milder scoliosis than patients who were homozygous for the G allele at the same position (GG genotype), the latter group of patients were more likely to suffer from severe scoliosis, whereas patients with the AA genotype were more likely to have successful results from brace treatment than their GG counterparts.
579:
554:
253:
894:
37:
875:
be able to detect and treat any potential progression of the condition as early as possible. Alongside regular check-ups, individuals with mild AIS are often encouraged to use other methods such as the
Schroth method, which focuses on posture, breathing and strength training, as well as more general stretching
543:. The researchers leading the study decided to do an animal model to simulate the effects of the mutation by engineering zebrafish with homozygous tandem duplications in their SLC39A8 genes, most zebrafish within the animal model developed vertebral and "thoracical deformities" and were short of body length.
874:
Treatment for mild cases of AIS (less than 20° Cobb angle) usually consists of regular physical check-ups done in a clinical environment to monitor the curvature of the individual's spine. The purpose of these check-ups is preventative, with them being undertaken in order for medical professionals to
224:
Other complications associated with severe scoliosis include internal intrathoracic organ displacement and the disruption of appropriate rib movement. Back pain is the most common of complications that may be experienced by patients with both non-severe and severe cases alike. Patients with extremely
734:
In a 2016 study done on a single
Chinese family with familial adolescent idiopathic scoliosis, researchers found a c.2645A>C missense mutation in the AKAP2 gene of affected members by performing whole exome sequencing. This genetic variant was not found in the 1,254 AIS patients and 1,232 control
432:
higher chance of developing adolescent scoliosis, moreover, these genetic variants were shown to increase the risk of AIS significantly for women, while barely doing the same for men. They also found that the same genetic variants that increased the risk of AIS also reduced the risk of early-onset
208:
Most patients with AIS do not go on to develop health complications due to the fact that most cases of the condition are usually non-progressive and/or mild to moderate in severity. Those who do develop complications usually are part of the smaller group of AIS patients with severe cases, with the
200:
shoulders, and legs (the latter involving length), prominence of the shoulder blades, abnormal gait or walking, leaning towards and favouring one side of the body, tilting of the pelvis, and elevation of the hips. External signs include a visual or physical discomfort with clothes of certain fits.
431:
In a study done in 2015, evidence was found for a sex-linked genetic cause of AIS; by performing a genomewide association study on more than 3,000 "idiopathic scoliosis" patients, the authors found that SNPs in the 20p11.2 locus (specifically those located in the PAX1 gene) were associated with a
3161:"Pathogenesis of adolescent idiopathic scoliosis in girls - a double neuro-osseous theory involving disharmony between two nervous systems, somatic and autonomic expressed in the spine and trunk: possible dependency on sympathetic nervous system and hormones with implications for medical therapy"
906:
AIS is the most common form of idiopathic scoliosis, accounting for around 90% of all cases. Adolescent
Idiopathic Scoliosis affects between 1-4% of teenagers, with treatment being required for only 0.25% of teenagers with the condition. An even smaller portion of individuals may die due to the
199:
Since most cases of AIS are mild, teenagers with the condition typically do not show any obvious signs such as pain. Instead, most symptoms associated with AIS consist of physical features that would not typically be present in a teenager without the condition, including asymmetry of the waist,
241:
Although has been noted that approximately 30% of teenagers diagnosed with AIS also have a family history of AIS, there is still no known genetic cause or mutation which may be identified as being fully or partially responsible for the condition. Various genetic variants have been described in
589:
In a study done in 2014, researchers undertook whole-exome sequencing on 91 Caucasian patients with severe adolescent idiopathic scoliosis and 331 Caucasian control subjects in order to find rare genetic mutations that might be deleterious and involved in AIS. The list of mutations that were
882:
Treatment for moderate cases of AIS (between 20 and 40° Cobb angle) usually consists of bracing of the spine; typically this will not change the curvature in and on itself, but prevents the spine's curvature from progressing any further and developing into a more serious case of AIS.
467:
A 2021 Chinese study found another SNP (rs1322330) in the gene associated with the condition. Participants included 1,980 AIS patients and 2,499 healthy control subjects, all patients and control subjects were of Han
Chinese ancestry. "A" was the risk allele for the condition.
272:
found 23 different polymorphisms in the CHD7 gene of these same patients, all of which were located inside a 116-kb genomic region which consisted of exons 2-4 of the same gene. The authors of the study noted that mutations in this gene are usually involved in the
191:) between the ages of 10–18 years old. Generally, AIS occurs during the growth spurt associated with adolescence. In some teens, the curvature is progressive, meaning that it gets worse over time, however, AIS more commonly manifests only as a mild curvature.
781:
Said patients were female, and thus had a 47,XXX karyotype (instead of the usual 46,XX female karyotype), the only clinical finding that the 2 patients with trisomy X shared was tall stature, with no signs of intellectual disability or developmental delay
2750:
Romano, Michele; Minozzi, Silvia; Bettany-Saltikov, Josette; Zaina, Fabio; Chockalingam, Nachiappan; Kotwicki, Tomasz; Maier-Hennes, Axel; Arienti, Chiara; Negrini, Stefano (2024-02-28). "Therapeutic exercises for idiopathic scoliosis in adolescents".
263:
In a study done in 2006, genomewide linkage scans were performed on 130 patients from 53 families where adolescent idiopathic scoliosis had been segregated as a familial trait, these scans narrowed the AIS loci in these families to the 8q12 locus (in
524:
increases the risk of AIS, this gene is located in the aforementioned gene, and the risk allele for adolescent idiopathic scoliosis is A, while the normal allele is C. This SNP, however, has only been studied in AIS patients of Han
Chinese ancestry.
3362:
Liu Z, Tang NL, Cao XB, Liu WJ, Qiu XS, Cheng JC, Qiu Y (August 2010). "Lack of association between the promoter polymorphisms of MMP-3 and IL-6 genes and adolescent idiopathic scoliosis: a case-control study in a
Chinese Han population".
420:
The authors believed that the decrease of functional CHD7 protein during the growth spurt that occurs during adolescence predisposed the individuals to their spinal curvature by disrupting normal growth patterns and turning them abnormal.
539:) which was seen to be strongly associated with the condition in the patients. Other features that were seen to be associated with the 391T scoliosis risk allele included short stature, lower-than-average plasma Mn2+ levels, and a high
910:
Although mild curvature affects females and males equally, severe curvatures tend to affect female teens more than male teens. Post-surgical complications are most common among men and those with coexisting health conditions (such as
2865:"Perioperative outcome and complications following single-staged Posterior Spinal Fusion (PSF) using pedicle screw instrumentation in Adolescent Idiopathic Scoliosis (AIS): a review of 1057 cases from a single centre"
2339:
Qiu Y, Mao SH, Qian BP, Jiang J, Qiu XS, Zhao Q, Liu Z (January 2012). "A promoter polymorphism of neurotrophin 3 gene is associated with curve severity and bracing effectiveness in adolescent idiopathic scoliosis".
1915:
Takahashi Y, Kou I, Takahashi A, Johnson TA, Kono K, Kawakami N, et al. (October 2011). "A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis".
743:
In a different study from 2014, researchers undertook genomewide copy number variant screening on 143 patients with AIS and 1,079 control subjects (consisting of 666 healthy control subjects from a previous
535:
In a study done in 2018, a group of researchers performed an exome-wide association study on more than 1,000 European-American patients with severe adolescent idiopathic scoliosis and found an SNP (
1108:
446:
A Japanese study in 2011 found an SNP associated with an increased risk of developing adolescent idiopathic scoliosis. A Chinese study undertaken in 2012 also further supported this finding.
209:
most common health complications among this group of patients being abnormalities that involve the lungs (such as bilateral reduction in lung volume). These abnormalities usually result in
3453:
Sui W, Yang J, Huang Z, Wang Q, Fan H, Deng Y (2017). "Polymorphisms in promoter regions of MMP-3 and IL-6 genes are not associated to adolescent idiopathic scoliosis (AIS) gender bias".
3115:"Patient and operative factors associated with complications following adolescent idiopathic scoliosis surgery: an analysis of 36,335 patients from the Nationwide Inpatient Sample"
848:
613:
Rare mutations in the FBN1 and FBN2 genes were found in AIS patients and control subjects alike, the following list consists specifically of the mutations found in the FBN1 gene:
890:
usually involving bone grafts and the insertion of proper spinal instrumentation into the spine. These treatments typically do not have high post-surgical complication rates.
799:
482:) which was associated with an increased risk of AIS, said SNP was found in the GPR126 gene, located in chromosome 6. This same SNP is associated with increased length of the
1666:
Wang W, Chen T, Liu Y, Wang S, Yang N, Luo M (September 2022). "Predictive value of single-nucleotide polymorphisms in curve progression of adolescent idiopathic scoliosis".
787:
242:
medical literature and noted as having the potential to increase a person's susceptibility in developing adolescent idiopathic scoliosis. Some of those genes include:
464:
which were made to have overexpression of the three Lbx1 genes, this overexpression was found to cause early-onset scoliosis in the zebrafish used for the study.
603:
158:
1618:
1157:
866:
For adolescent idiopathic scoliosis to be considered as a diagnostic option in the patient, said patient must be between the ages of 10 and 18 years old.
954:
233:
Although the cause of
Adolescent Idiopathic Scoliosis is generally unknown, it is believed to be caused by both genetic and environmental factors.
1211:
225:
severe cases of AIS (individuals with a Cobb angle of 100° or higher) typically have a shortened life expectancy, generally dying prematurely.
3321:"Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci"
565:
536:
521:
450:
407:
401:
389:
305:
287:
460:
The authors of a separate
Japanese study, undertaken in 2015, created animal models relating to the gene, said animal models consisted of
839:
506:
500:
479:
453:. This SNP was located in an area 75 kb 3' of the LBX1 gene, an intergenic area that also happened to be close to a separate gene called
413:
395:
383:
377:
371:
365:
359:
353:
347:
341:
335:
329:
323:
317:
311:
299:
293:
281:
2725:
2119:"Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size"
2701:
907:
severe curvature as well as the related symptoms and effects. AIS appears to be more common among those living in northern latitudes.
493:
study done in 2015 found evidence for an association between three SNPS in intronic regions of the gene and AIS. They were as follows:
454:
978:
2994:
Cheng JC, Castelein RM, Chu WC, Danielsson AJ, Dobbs MB, Grivas TB, et al. (September 2015). "Adolescent idiopathic scoliosis".
1311:
564:
In a
Chinese study done in 2012, 500 patients with AIS were recruited for a genomewide association study. This study found an SNP (
2068:
Is
Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles"
79:
Most cases are usually mild, therefore they do not have any complications, however; in rare cases where the curvature is severe,
2588:
3278:"A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis"
670:, a rare autosomal dominant genetic disorder characterized by Marfanoid habitus, joint hypermobility, and cardiac problems.
1182:
2486:"Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population"
680:
The same 2014 study mentioned above also detected mutations in the FBN2 of some of the people they used for the study:
3484:"Potential genetic markers predicting the outcome of brace treatment in patients with adolescent idiopathic scoliosis"
3039:"Association between adolescent idiopathic scoliosis prevalence and age at menarche in different geographic latitudes"
1709:
Makki N, Zhao J, Liu Z, Eckalbar WL, Ushiki A, Khanshour AM, Wu J, Rios J, Gray RS, Wise CA, Ahituv N (January 2021).
590:
considered rare by the researchers consisted of coding variants that were absent on the dbSNP database and caused
1545:
1760:"Exploring the association between specific genes and the onset of idiopathic scoliosis: a systematic review"
2117:
Soranzo N, Rivadeneira F, Chinappen-Horsley U, Malkina I, Richards JB, Hammond N, et al. (April 2009).
3535:
3402:"Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3"
805:
793:
3089:
2644:
3113:
De la Garza Ramos R, Goodwin CR, Abu-Bonsrah N, Jain A, Miller EK, Huang N, et al. (December 2016).
759:, found in 3 out of the 143 patients with AIS (2.1%) and in 1 out of the 1,079 control subjects (0.09%).
756:
1133:
1711:"Genomic characterization of the adolescent idiopathic scoliosis-associated transcriptome and regulome"
1035:
767:
3159:
Burwell RG, Aujla RK, Grevitt MP, Dangerfield PH, Moulton A, Randell TL, Anderson SI (October 2009).
2798:
2170:"Association of GPR126 gene polymorphism with adolescent idiopathic scoliosis in Chinese populations"
1235:
879:. in order to manage the effects of the condition but the evidence for exercise efficacy is limited.
778:, found in 2 out of the 143 patients (1.4%) and in 1 out of the 529 female control subjects (0.19%).
277:, which has late-onset scoliosis as one of its common associated features. The SNPS were as follows:
1642:
2437:"AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis"
2282:
Haller G, McCall K, Jenkitkasemwong S, Sadler B, Antunes L, Nikolov M, et al. (October 2018).
3247:
Drummond DS, Rogala EJ (1980). "Growth and maturation of adolescents with idiopathic scoliosis".
3206:"Progression or not progression? How to deal with adolescent idiopathic scoliosis during puberty"
1961:"SNP rs11190870 near LBX1 is associated with adolescent idiopathic scoliosis in southern Chinese"
763:
125:
74:
1758:
De Salvatore S, Ruzzini L, Longo UG, Marino M, Greco A, Piergentili I, et al. (May 2022).
210:
2386:
Buchan JG, Alvarado DM, Haller GE, Cruchaga C, Harms MB, Zhang T, et al. (October 2014).
178:
Rather common, affecting approximately 2 to 4% of adolescents (1 in 50/1 in 25-30 adolescents)
3319:
Khanshour AM, Kou I, Fan Y, Einarsdottir E, Makki N, Kidane YH, et al. (November 2018).
2672:"Adolescent idiopathic scoliosis - Symptoms, diagnosis and treatment | BMJ Best Practice US"
1860:"A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females"
762:
Family history examination in the patients with the duplication did not find any reports of
3413:
2614:
2388:"Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis"
2295:
1871:
812:
8:
3276:
Haller G, Alvarado D, Mccall K, Yang P, Cruchaga C, Harms M, et al. (January 2016).
2822:
Jada A, Mackel CE, Hwang SW, Samdani AF, Stephen JH, Bennett JT, Baaj AA (October 2017).
599:
218:
214:
3417:
2299:
1959:
Fan YH, Song YQ, Chan D, Takahashi Y, Ikegawa S, Matsumoto M, et al. (April 2012).
1875:
1076:
752:
study). The following list consists of the CNVs found in the participants of the study:
666:
Of the 16 FBN1 mutations listed, three had previously been described as associated with
3508:
3483:
3436:
3401:
3388:
3345:
3320:
3302:
3277:
3230:
3205:
3187:
3160:
3065:
3038:
3019:
2940:
2915:
2891:
2864:
2565:
2540:
2512:
2485:
2461:
2436:
2412:
2387:
2365:
2316:
2283:
2259:
2234:
2145:
2118:
2094:
2063:
2039:
2012:
1990:
1941:
1892:
1859:
1858:
Sharma S, Londono D, Eckalbar WL, Gao X, Zhang D, Mauldin K, et al. (March 2015).
1835:
1810:
1786:
1759:
1735:
1710:
1691:
1595:
1571:"Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood"
1570:
1522:
1495:
1468:
1441:
1417:
1390:
1366:
1339:
1287:
1260:
1085:
1060:
80:
61:
1389:
Kotwicki T, Chowanska J, Kinel E, Czaprowski D, Tomaszewski M, Janusz P (2013-07-23).
3513:
3470:
3441:
3380:
3350:
3307:
3264:
3260:
3235:
3192:
3136:
3070:
3011:
2976:
2945:
2896:
2845:
2780:
2768:
2626:
2570:
2536:
2517:
2466:
2417:
2357:
2321:
2264:
2191:
2150:
2099:
2044:
1982:
1933:
1897:
1840:
1791:
1740:
1695:
1683:
1600:
1527:
1473:
1422:
1371:
1292:
1090:
1011:
826:
This condition can be diagnosed through the use of the following diagnostic methods:
607:
133:
49:
3392:
3023:
2369:
1994:
1811:"CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis"
808:, found in 1 out of the 143 AIS patients and in 2 out of the 1,079 control subjects
3503:
3495:
3462:
3431:
3421:
3372:
3340:
3332:
3297:
3289:
3256:
3225:
3217:
3182:
3172:
3126:
3060:
3050:
3003:
2935:
2927:
2886:
2876:
2835:
2776:
2764:
2760:
2560:
2552:
2507:
2497:
2456:
2448:
2407:
2399:
2349:
2311:
2303:
2254:
2246:
2181:
2140:
2130:
2089:
2079:
2034:
2024:
1972:
1945:
1925:
1887:
1879:
1830:
1822:
1781:
1771:
1730:
1722:
1675:
1590:
1582:
1517:
1507:
1463:
1453:
1412:
1402:
1361:
1351:
1282:
1272:
1080:
1072:
802:, found in 1 out of the 143 AIS patients and in 5 out of the 1,079 control subjects
796:, found in 1 out of the 143 AIS patients and in 4 out of the 1,079 control subjects
790:, found in 1 out of the 143 AIS patients and in 7 out of the 1,079 control subjects
745:
54:
2452:
1496:"Adolescent idiopathic scoliosis: natural history and long term treatment effects"
3426:
3376:
2353:
2233:
Ogura Y, Kou I, Miura S, Takahashi A, Xu L, Takeda K, et al. (August 2015).
2135:
667:
540:
483:
274:
269:
2671:
2186:
2169:
3540:
2964:
2881:
2307:
2250:
2209:
2168:
Xu JF, Yang GH, Pan XH, Zhang SJ, Zhao C, Qiu BS, et al. (February 2015).
1809:
Gao X, Gordon D, Zhang D, Browne R, Helms C, Gillum J, et al. (May 2007).
1776:
1679:
1586:
1003:
934:
3499:
3400:
Miyake A, Kou I, Takahashi Y, Johnson TA, Ogura Y, Dai J, et al. (2013).
3221:
2931:
2840:
2823:
2556:
2502:
2284:"A missense variant in SLC39A8 is associated with severe idiopathic scoliosis"
2084:
2029:
1458:
3529:
3131:
3114:
2772:
2235:"A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis"
111:"Idiopathic" means that the general cause of the disorder is usually unknown.
2702:"Adolescent Idiopathic Scoliosis – Causes, Symptoms & Treatment Options"
3517:
3474:
3445:
3384:
3354:
3311:
3239:
3196:
3177:
3140:
3074:
3015:
2980:
2949:
2900:
2849:
2784:
2630:
2574:
2541:"Are copy number variants associated with adolescent idiopathic scoliosis?"
2521:
2470:
2421:
2361:
2325:
2268:
2195:
2154:
2103:
2048:
1986:
1937:
1901:
1844:
1795:
1744:
1687:
1604:
1531:
1477:
1426:
1375:
1296:
1094:
1015:
265:
187:(AIS) is a disorder in which the spine starts abnormally curving sideways (
3268:
3055:
2116:
1726:
1512:
1356:
1277:
1212:"Adolescent Idiopathic Scoliosis Orange, CA | Spinal Deformity Irvine, CA"
3336:
3293:
3007:
2403:
886:
Treatment for severe cases of AIS (more than 40° Cobb angle) consists of
860:
139:
116:
44:
Radiography of adolescent idiopathic scoliosis before corrective surgery.
3037:
Grivas TB, Vasiliadis E, Mouzakis V, Mihas C, Koufopoulos G (May 2006).
2824:"Evaluation and management of adolescent idiopathic scoliosis: a review"
1977:
1960:
1407:
578:
553:
3466:
3112:
1883:
1183:"Pediatric and Adolescent Scoliosis: Symptoms, Causes & Treatment"
1061:"SNPping away at the genetic basis of adolescent idiopathic scoliosis"
770:, two usual findings in patients with the 1q21.1 duplication syndrome.
478:
In a different Japanese study done in 2013, researchers found an SNP (
2484:
Xu L, Xia C, Zhu W, Feng Z, Qin X, Sun W, et al. (August 2017).
979:"Idiopathic Scoliosis in Children and Adolescents - OrthoInfo - AAOS"
924:
876:
775:
461:
188:
165:
66:
1643:"Adolescent Idiopathic Scoliosis | Causes, Symptoms & Treatment"
2435:
Li W, Li Y, Zhang L, Guo H, Tian D, Li Y, et al. (July 2016).
1929:
1826:
929:
749:
433:
121:
2863:
Kwan MK, Loh KW, Chung WH, Chiu CK, Hasan MS, Chan CY (May 2021).
2749:
2535:
Buchan JG, Alvarado DM, Haller G, Aferol H, Miller NH, Dobbs MB,
2281:
887:
717:
T>C missense mutation (p. Ile2466Val) at chr5:127 613 647
705:
G>C missense mutation (p. Leu1125Val) at chr5:127 674 724
702:
A>C missense mutation (p. Ile1116Ser) at chr5:127 674 750
662:
C>T missense mutation (p. Val2868Ile) at chr15:48 703 201
659:
A>G missense mutation (p. Ile2585Thr) at chr15:48 712 949
641:
A>C missense mutation (p. Leu1405Arg) at chr15:48 764 870
529:
3482:
Xu L, Qiu X, Sun X, Mao S, Liu Z, Qiao J, Qiu Y (October 2011).
1569:
Wise CA, Gao X, Shoemaker S, Gordon D, Herring JA (March 2008).
1388:
811:
The only AIS patient with this chromosomal duplication also had
693:
C>T missense mutation (p. Val592Met) at chr5:127 713 520
629:
C>T missense mutation (p. Val916Met) at chr15:48 784 766
617:
T>A missense mutation (p. Ile107Leu) at chr15:48 902 952
2987:
912:
893:
472:
252:
84:
3158:
2062:
Xu L, Feng Z, Dai Z, Lee WY, Wu Z, Liu Z, et al. (2021).
1757:
1619:"Adolescent Idiopathic Scoliosis | Scoliosis Research Society"
36:
3036:
728:
595:
591:
490:
2385:
1914:
1259:
Qiabi M, Chagnon K, Beaupré A, Hercun J, Rakovich G (2015).
3318:
2993:
2965:"Adolescent idiopathic scoliosis: diagnosis and management"
2799:"Adolescent Idiopathic Scoliosis: What Parents Should Know"
2615:"Adolescent idiopathic scoliosis: diagnosis and management"
2013:"Genomic study of adolescent idiopathic scoliosis in Japan"
1391:"Optimal management of idiopathic scoliosis in adolescence"
735:
subjects of Chinese ancestry during a later Chinese study.
723:
C>T missense mutation (p.Gly2620Glu) at chr5:127 607 792
720:
A>G missense mutation (p.Phe2603Ser) at chr5:127 609 564
714:
G>T missense mutation (p.Pro2085Thr) at chr5:127 627 260
711:
C>G missense mutation (p.Gly1271Ala) at chr5:127 671 182
708:
C>T missense mutation (p.Glu1178Lys) at chr5:127 673 755
699:
G>A missense mutation (p.Arg1021Cys) at chr5:127 681 205
674:
656:
T>A missense mutation (p.Tyr2225Phe) at chr15:48 725 128
653:
A>T missense mutation (p.Asn2178Lys) at chr15:48 726 873
650:
C>T missense mutation (p.Gly2003Arg) at chr15:48 736 768
647:
C>T missense mutation (p.Arg1850His) at chr15:48 741 087
644:
A>G missense mutation (p.Met1576Thr) at chr15:48 760 155
638:
C>T missense mutation (p.Gly1313Ser) at chr15:48 773 879
635:
G>A missense mutation (p.Pro1225Leu) at chr15:48 777 609
632:
C>T missense mutation (p.Gly1217Ser) at chr15:48 777 634
572:
547:
514:
440:
425:
246:
2534:
1340:"Pulmonary function in children with idiopathic scoliosis"
696:
G>T missense mutation (p.Pro740His) at chr5:127 704 904
626:
T>G missense mutation (p.Asn703His) at chr15:48 795 990
623:
T>C missense mutation (p.Gln697Arg) at chr15:48 796 007
620:
T>G missense mutation (p.Asn280Thr) at chr15:48 826 300
3399:
1258:
855:
687:
C>T missense mutation (p.Arg92Lys) at chr5:127 872 157
684:
C>T missense mutation (p.Gly53Asp) at chr5:127 873 139
3275:
2645:"Adolescent Idiopathic Scoliosis - Spine - Orthobullets"
1857:
497:
rs6570507 (A>G), with G being the risk allele for AIS
2913:
1546:"Adolescent idiopathic scoliosis: MedlinePlus Genetics"
1312:"How Do You Know if Scoliosis is Affecting Your Lungs?"
149:
Reducing the frequency of being in an abnormal posture.
2821:
2232:
1568:
1134:"Understanding Adolescent Idiopathic Scoliosis (AIS)"
416:, with the T allele representing a higher risk of AIS
410:, with the A allele representing a higher risk of AIS
404:, with the G allele representing a higher risk of AIS
398:, with the A allele representing a higher risk of AIS
392:, with the T allele representing a higher risk of AIS
386:, with the T allele representing a higher risk of AIS
380:, with the A allele representing a higher risk of AIS
374:, with the G allele representing a higher risk of AIS
368:, with the A allele representing s higher risk of AIS
362:, with the T allele representing a higher risk of AIS
356:, with the T allele representing a higher risk of AIS
350:, with the C allele representing a higher risk of AIS
344:, with the T allele representing a higher risk of AIS
338:, with the A allele representing a higher risk of AIS
332:, with the G allele representing a higher risk of AIS
326:, with the A allele representing a higher risk of AIS
320:, with the G allele representing a higher risk of AIS
314:, with the A allele representing a higher risk of AIS
308:, with the T allele representing a higher risk of AIS
302:, with the G allele representing a higher risk of AIS
296:, with the T allele representing a higher risk of AIS
290:, with the G allele representing a higher risk of AIS
284:, with the C allele representing a higher risk of AIS
2914:
Konieczny MR, Senyurt H, Krauspe R (February 2013).
1958:
1808:
1708:
2706:
Mehta Spine - Children and Adult Spinal Surgeon, UK
690:
A>ACTGTA frameshift mutation at chr5:127 782 238
3455:Journal of Back and Musculoskeletal Rehabilitation
2962:
2612:
1337:
748:study and 413 patients from a previous congenital
2916:"Epidemiology of adolescent idiopathic scoliosis"
1751:
3527:
3452:
3203:
3081:
2862:
2963:Horne JP, Flannery R, Usman S (February 2014).
2613:Horne JP, Flannery R, Usman S (February 2014).
2338:
1665:
1442:"Adolescent idiopathic scoliosis and back pain"
1010:. Treasure Island (FL): StatPearls Publishing.
449:The SNP investigated in both studies is called
3246:
2381:
2379:
2167:
1439:
1052:
509:(A>G), with G being the risk allele for AIS
503:(A>C), with C being the risk allele for AIS
3361:
1158:"Symptoms of Adolescent Idiopathic Scoliosis"
2483:
2434:
2061:
1395:Adolescent Health, Medicine and Therapeutics
560:, a protein that is encoded by the NTF3 gene
3481:
2753:The Cochrane Database of Systematic Reviews
2376:
2072:Frontiers in Cell and Developmental Biology
1493:
436:in the participants involved in the study.
257:Chromodomain-helicase-DNA-binding protein 7
2606:
2545:Clinical Orthopaedics and Related Research
1702:
1489:
1487:
1058:
995:
486:in people of primarily European ancestry.
35:
3507:
3435:
3425:
3344:
3301:
3229:
3186:
3176:
3130:
3090:"Adolescent Idiopathic Scoliosis - Spine"
3064:
3054:
2939:
2890:
2880:
2839:
2564:
2511:
2501:
2460:
2411:
2315:
2258:
2185:
2144:
2134:
2093:
2083:
2038:
2028:
1976:
1891:
1834:
1785:
1775:
1734:
1659:
1594:
1521:
1511:
1467:
1457:
1416:
1406:
1365:
1355:
1286:
1276:
1084:
1001:
3204:Dimeglio A, Canavese F (February 2013).
2956:
892:
577:
552:
251:
2055:
2010:
1484:
1338:Tsiligiannis T, Grivas T (March 2012).
1109:"Adolescent Idiopathic Scoliosis (AIS)"
738:
211:impairments of the respiratory function
3528:
2666:
2664:
2593:Columbia Neurosurgery in New York City
2699:
2695:
2693:
2691:
2064:"A Functional SNP in the Promoter of
2006:
2004:
1333:
1331:
1309:
1261:"Scoliosis and bronchial obstruction"
1206:
1204:
1202:
1004:"Adolescent and Idiopathic Scoliosis"
194:
30:Adolescent-onset idiopathic scoliosis
1162:Weill Cornell Brain and Spine Center
3119:Journal of Neurosurgery. Pediatrics
2815:
2791:
2700:Mehta, Mr Jwalant S. (2020-01-24).
2661:
1635:
1440:Balagué F, Pellisé F (2016-09-09).
1433:
1077:10.3978/j.issn.2305-5839.2015.02.34
259:, the enzyme coded by the CHD7 gene
13:
3210:Journal of Children's Orthopaedics
3151:
3087:
2920:Journal of Children's Orthopaedics
2688:
2275:
2239:American Journal of Human Genetics
2001:
1815:American Journal of Human Genetics
1494:Asher MA, Burton DC (March 2006).
1328:
1199:
1126:
1101:
585:, protein encoded by the FBN1 gene
14:
3552:
2589:"Adolescent Idiopathic Scoliosis"
955:"Adolescent Idiopathic Scoliosis"
3261:10.1097/00007632-198011000-00004
1065:Annals of Translational Medicine
203:
69:that appears at the age of 10-18
3106:
3030:
2996:Nature Reviews. Disease Primers
2907:
2856:
2743:
2718:
2637:
2581:
2528:
2477:
2428:
2332:
2226:
2202:
2161:
2110:
1952:
1908:
1851:
1802:
1611:
1562:
1538:
1382:
1303:
1252:
1228:
901:
185:Adolescent idiopathic scoliosis
22:Adolescent idiopathic scoliosis
2765:10.1002/14651858.CD007837.pub3
2726:"Schroth Method for Scoliosis"
2017:Scoliosis and Spinal Disorders
1446:Scoliosis and Spinal Disorders
1175:
1150:
1028:
971:
947:
1:
2869:BMC Musculoskeletal Disorders
2490:BMC Musculoskeletal Disorders
2453:10.1136/jmedgenet-2015-103684
940:
3427:10.1371/journal.pone.0072802
3377:10.1097/BRS.0b013e3181c6ba13
2803:Hospital for Special Surgery
2354:10.1097/BRS.0b013e31823e5890
2136:10.1371/journal.pgen.1000445
1265:Canadian Respiratory Journal
869:
821:
7:
2441:Journal of Medical Genetics
2187:10.1016/j.ygeno.2014.11.009
1647:www.cincinnatichildrens.org
1113:Columbia Orthopedic Surgery
918:
897:Scoliosis bracing treatment
236:
10:
3557:
2882:10.1186/s12891-021-04225-5
2308:10.1038/s41467-018-06705-0
2251:10.1016/j.ajhg.2015.06.012
1777:10.1186/s12920-022-01272-2
1680:10.1007/s00586-022-07213-y
1587:10.2174/138920208783884874
1316:Scoliosis Reduction Center
1059:Giampietro PF (May 2015).
1002:Menger RP, Sin AH (2022).
959:Scoliosis Research Society
528:
3500:10.1007/s00586-011-1874-7
3222:10.1007/s11832-012-0463-6
2969:American Family Physician
2932:10.1007/s11832-012-0457-4
2841:10.3171/2017.7.FOCUS17297
2619:American Family Physician
2557:10.1007/s11999-014-3766-8
2503:10.1186/s12891-017-1731-x
2085:10.3389/fcell.2021.777890
2030:10.1186/s13013-016-0067-x
1965:Journal of Human Genetics
1459:10.1186/s13013-016-0086-7
1236:"Scoliosis and breathing"
471:
228:
174:
164:
153:
145:
132:
115:
107:
99:
91:
73:
60:
48:
43:
34:
26:
21:
3325:Human Molecular Genetics
3282:Human Molecular Genetics
3132:10.3171/2016.6.PEDS16200
2392:Human Molecular Genetics
2011:Ikegawa S (2016-04-01).
1715:Human Molecular Genetics
1040:Raising Children Network
776:X chromosome duplication
727:
2730:www.hopkinsmedicine.org
847:Physical tests such as
764:intellectual disability
673:
571:
546:
513:
439:
424:
245:
3488:European Spine Journal
3178:10.1186/1748-7161-4-24
2210:"rs10738445 - SNPedia"
1668:European Spine Journal
1310:Nalda T (2020-04-21).
898:
586:
561:
260:
138:Physical examination,
3056:10.1186/1748-7161-1-9
2288:Nature Communications
1864:Nature Communications
1513:10.1186/1748-7161-1-2
1357:10.1186/1748-7161-7-7
1240:Scoliosis Association
1216:www.jeremysmithmd.com
896:
836:Asymmetric leg length
830:Physical examination
581:
556:
255:
3008:10.1038/nrdp.2015.30
2676:bestpractice.bmj.com
2649:www.orthobullets.com
1764:BMC Medical Genomics
833:Asymmetric shoulders
813:spina bifida occulta
739:Copy number variants
159:correctional surgery
3536:Idiopathic diseases
3418:2013PLoSO...872802M
2828:Neurosurgical Focus
2300:2018NatCo...9.4171H
1978:10.1038/jhg.2012.11
1876:2015NatCo...6.6452.
1727:10.1093/hmg/ddaa242
1408:10.2147/AHMT.S32088
1278:10.1155/2015/640573
806:16p11.2 duplication
800:15q11.2 duplication
768:developmental delay
103:Life-long (usually)
3467:10.3233/BMR-150309
3337:10.1093/hmg/ddy306
3294:10.1093/hmg/ddv463
2404:10.1093/hmg/ddu224
1884:10.1038/ncomms7452
899:
888:corrective surgery
757:1q21.1 duplication
587:
562:
261:
195:Signs and symptoms
157:Physical therapy,
81:breathing problems
3494:(10): 1757–1764.
3371:(18): 1701–1705.
3331:(22): 3986–3998.
2551:(10): 3216–3225.
2398:(19): 5271–5282.
1924:(12): 1237–1240.
1721:(22): 3606–3615.
983:www.orthoinfo.org
182:
181:
134:Diagnostic method
16:Medical condition
3548:
3521:
3511:
3478:
3449:
3439:
3429:
3396:
3358:
3348:
3315:
3305:
3272:
3243:
3233:
3200:
3190:
3180:
3145:
3144:
3134:
3110:
3104:
3103:
3101:
3100:
3085:
3079:
3078:
3068:
3058:
3034:
3028:
3027:
2991:
2985:
2984:
2960:
2954:
2953:
2943:
2911:
2905:
2904:
2894:
2884:
2860:
2854:
2853:
2843:
2819:
2813:
2812:
2810:
2809:
2795:
2789:
2788:
2779: 10900302.
2747:
2741:
2740:
2738:
2737:
2722:
2716:
2715:
2713:
2712:
2697:
2686:
2685:
2683:
2682:
2668:
2659:
2658:
2656:
2655:
2641:
2635:
2634:
2610:
2604:
2603:
2601:
2600:
2585:
2579:
2578:
2568:
2539:(October 2014).
2532:
2526:
2525:
2515:
2505:
2481:
2475:
2474:
2464:
2432:
2426:
2425:
2415:
2383:
2374:
2373:
2336:
2330:
2329:
2319:
2279:
2273:
2272:
2262:
2230:
2224:
2223:
2221:
2220:
2206:
2200:
2199:
2189:
2165:
2159:
2158:
2148:
2138:
2114:
2108:
2107:
2097:
2087:
2059:
2053:
2052:
2042:
2032:
2008:
1999:
1998:
1980:
1956:
1950:
1949:
1912:
1906:
1905:
1895:
1855:
1849:
1848:
1838:
1806:
1800:
1799:
1789:
1779:
1755:
1749:
1748:
1738:
1706:
1700:
1699:
1674:(9): 2311–2325.
1663:
1657:
1656:
1654:
1653:
1639:
1633:
1632:
1630:
1629:
1615:
1609:
1608:
1598:
1575:Current Genomics
1566:
1560:
1559:
1557:
1556:
1542:
1536:
1535:
1525:
1515:
1491:
1482:
1481:
1471:
1461:
1437:
1431:
1430:
1420:
1410:
1386:
1380:
1379:
1369:
1359:
1335:
1326:
1325:
1323:
1322:
1307:
1301:
1300:
1290:
1280:
1256:
1250:
1249:
1247:
1246:
1232:
1226:
1225:
1223:
1222:
1208:
1197:
1196:
1194:
1193:
1187:Cleveland Clinic
1179:
1173:
1172:
1170:
1169:
1154:
1148:
1147:
1145:
1144:
1130:
1124:
1123:
1121:
1120:
1105:
1099:
1098:
1088:
1071:(Suppl 1): S26.
1056:
1050:
1049:
1047:
1046:
1032:
1026:
1025:
1023:
1022:
999:
993:
992:
990:
989:
975:
969:
968:
966:
965:
951:
794:15q11.2 deletion
788:2q13 duplication
746:bipolar disorder
520:An SNP known as
55:Medical genetics
39:
19:
18:
3556:
3555:
3551:
3550:
3549:
3547:
3546:
3545:
3526:
3525:
3524:
3154:
3152:Further reading
3149:
3148:
3111:
3107:
3098:
3096:
3086:
3082:
3035:
3031:
2992:
2988:
2961:
2957:
2912:
2908:
2861:
2857:
2820:
2816:
2807:
2805:
2797:
2796:
2792:
2759:(2): CD007837.
2748:
2744:
2735:
2733:
2724:
2723:
2719:
2710:
2708:
2698:
2689:
2680:
2678:
2670:
2669:
2662:
2653:
2651:
2643:
2642:
2638:
2611:
2607:
2598:
2596:
2587:
2586:
2582:
2533:
2529:
2482:
2478:
2433:
2429:
2384:
2377:
2337:
2333:
2280:
2276:
2231:
2227:
2218:
2216:
2214:www.snpedia.com
2208:
2207:
2203:
2166:
2162:
2129:(4): e1000445.
2115:
2111:
2060:
2056:
2009:
2002:
1957:
1953:
1918:Nature Genetics
1913:
1909:
1856:
1852:
1807:
1803:
1756:
1752:
1707:
1703:
1664:
1660:
1651:
1649:
1641:
1640:
1636:
1627:
1625:
1617:
1616:
1612:
1567:
1563:
1554:
1552:
1550:medlineplus.gov
1544:
1543:
1539:
1492:
1485:
1438:
1434:
1387:
1383:
1336:
1329:
1320:
1318:
1308:
1304:
1257:
1253:
1244:
1242:
1234:
1233:
1229:
1220:
1218:
1210:
1209:
1200:
1191:
1189:
1181:
1180:
1176:
1167:
1165:
1156:
1155:
1151:
1142:
1140:
1132:
1131:
1127:
1118:
1116:
1107:
1106:
1102:
1057:
1053:
1044:
1042:
1034:
1033:
1029:
1020:
1018:
1000:
996:
987:
985:
977:
976:
972:
963:
961:
953:
952:
948:
943:
921:
904:
872:
824:
741:
732:
678:
668:Marfan syndrome
576:
551:
541:body mass index
533:
518:
476:
444:
429:
275:CHARGE syndrome
270:genetic testing
250:
239:
231:
206:
197:
95:10-18 years old
17:
12:
11:
5:
3554:
3544:
3543:
3538:
3523:
3522:
3479:
3461:(3): 559–563.
3450:
3397:
3359:
3316:
3288:(1): 202–209.
3273:
3255:(6): 507–511.
3244:
3201:
3155:
3153:
3150:
3147:
3146:
3125:(6): 730–736.
3105:
3080:
3029:
2986:
2975:(3): 193–198.
2955:
2906:
2855:
2814:
2790:
2742:
2717:
2687:
2660:
2636:
2605:
2580:
2527:
2476:
2447:(7): 488–493.
2427:
2375:
2348:(2): 127–133.
2331:
2274:
2245:(2): 337–342.
2225:
2201:
2180:(2): 101–107.
2160:
2109:
2054:
2000:
1971:(4): 244–246.
1951:
1930:10.1038/ng.974
1907:
1850:
1827:10.1086/513571
1821:(5): 957–965.
1801:
1750:
1701:
1658:
1634:
1610:
1561:
1537:
1483:
1432:
1381:
1327:
1302:
1271:(4): 206–208.
1251:
1227:
1198:
1174:
1149:
1125:
1100:
1051:
1027:
994:
970:
945:
944:
942:
939:
938:
937:
935:Kyphoscoliosis
932:
927:
920:
917:
903:
900:
871:
868:
864:
863:
858:
853:
852:
851:
845:
844:Prominent ribs
842:
837:
834:
823:
820:
819:
818:
817:
816:
803:
797:
791:
785:
784:
783:
773:
772:
771:
740:
737:
731:
726:
725:
724:
721:
718:
715:
712:
709:
706:
703:
700:
697:
694:
691:
688:
685:
677:
672:
664:
663:
660:
657:
654:
651:
648:
645:
642:
639:
636:
633:
630:
627:
624:
621:
618:
575:
570:
558:Neurotrophin 3
550:
545:
532:
527:
517:
512:
511:
510:
504:
498:
475:
470:
443:
438:
428:
423:
418:
417:
411:
405:
399:
393:
387:
381:
375:
369:
363:
357:
351:
345:
339:
333:
327:
321:
315:
309:
303:
297:
291:
285:
249:
244:
238:
235:
230:
227:
205:
202:
196:
193:
180:
179:
176:
172:
171:
168:
162:
161:
155:
151:
150:
147:
143:
142:
136:
130:
129:
119:
113:
112:
109:
105:
104:
101:
97:
96:
93:
89:
88:
77:
71:
70:
64:
58:
57:
52:
46:
45:
41:
40:
32:
31:
28:
24:
23:
15:
9:
6:
4:
3:
2:
3553:
3542:
3539:
3537:
3534:
3533:
3531:
3519:
3515:
3510:
3505:
3501:
3497:
3493:
3489:
3485:
3480:
3476:
3472:
3468:
3464:
3460:
3456:
3451:
3447:
3443:
3438:
3433:
3428:
3423:
3419:
3415:
3412:(9): e72802.
3411:
3407:
3403:
3398:
3394:
3390:
3386:
3382:
3378:
3374:
3370:
3366:
3360:
3356:
3352:
3347:
3342:
3338:
3334:
3330:
3326:
3322:
3317:
3313:
3309:
3304:
3299:
3295:
3291:
3287:
3283:
3279:
3274:
3270:
3266:
3262:
3258:
3254:
3250:
3245:
3241:
3237:
3232:
3227:
3223:
3219:
3215:
3211:
3207:
3202:
3198:
3194:
3189:
3184:
3179:
3174:
3170:
3166:
3162:
3157:
3156:
3142:
3138:
3133:
3128:
3124:
3120:
3116:
3109:
3095:
3091:
3084:
3076:
3072:
3067:
3062:
3057:
3052:
3048:
3044:
3040:
3033:
3025:
3021:
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3094:Orthobullets
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2732:. 2021-08-08
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2595:. 2021-04-08
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1581:(1): 51–59.
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1164:. 2018-03-23
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1115:. 2020-02-18
1112:
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1007:
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958:
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902:Epidemiology
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266:chromosome 8
262:
256:
240:
232:
223:
207:
198:
184:
183:
117:Risk factors
85:with balance
2294:(1): 4171.
1623:www.srs.org
1036:"Scoliosis"
861:Radiographs
782:whatsoever.
610:mutations.
604:splice-site
583:Fibrillin 1
462:zebrafishes
268:). Further
140:Radiography
92:Usual onset
27:Other names
3530:Categories
3099:2022-05-21
3088:Souder C.
2926:(1): 3–9.
2875:(1): 413.
2808:2022-09-29
2736:2022-09-30
2711:2022-09-30
2681:2022-09-30
2654:2022-09-30
2599:2022-09-30
2537:Gurnett CA
2496:(1): 368.
2219:2022-09-30
2078:: 777890.
1770:(1): 115.
1652:2022-09-29
1628:2022-05-21
1555:2022-05-21
1321:2022-09-30
1245:2022-09-30
1221:2022-09-30
1192:2022-09-30
1168:2022-09-30
1143:2022-09-29
1119:2022-09-29
1045:2022-09-30
1021:2022-09-29
1008:StatPearls
988:2022-05-21
964:2022-05-21
941:References
849:Adams test
600:frameshift
592:insertions
566:rs11063714
537:rs13107325
522:rs10738445
451:rs11190870
408:rs10092214
402:rs10957159
390:rs13280978
306:rs13256023
288:rs12544305
146:Prevention
87:can arise.
3165:Scoliosis
3043:Scoliosis
2834:(4): E2.
2773:1469-493X
1696:248220097
1500:Scoliosis
1452:(1): 27.
1401:: 59–73.
1344:Scoliosis
925:Scoliosis
877:exercises
870:Treatment
840:Cavovarus
822:Diagnosis
596:deletions
507:rs7755109
501:rs7774095
480:rs6570507
434:hair loss
414:rs3763591
396:rs4301480
384:rs4237036
378:rs4392940
372:hcv509505
366:rs7017676
360:rs7842389
354:rs7002806
348:rs7843033
342:rs1038351
336:rs1483208
330:rs1483207
324:hcv148921
318:rs7000766
312:rs4288413
300:rs1017861
294:rs9643371
282:rs4738813
189:scoliosis
175:Frequency
166:Prognosis
154:Treatment
67:Scoliosis
50:Specialty
3518:21691901
3475:27911281
3446:24023777
3406:PLOS ONE
3393:24634174
3385:20436380
3355:30395268
3312:26566670
3240:24432058
3197:19878575
3141:27564784
3075:16759371
3049:(1): 9.
3024:21284193
3016:27188385
2981:24506121
2950:24432052
2901:33947368
2850:28965447
2785:38415871
2631:24506121
2575:25005481
2522:28838314
2471:26989089
2422:24833718
2370:34341350
2362:22158057
2326:30301978
2269:26211971
2196:25479386
2174:Genomics
2155:19343178
2104:34917617
2049:27299157
2023:(1): 5.
1995:43017481
1987:22301463
1938:22019779
1902:25784220
1870:: 6452.
1845:17436250
1796:35590413
1745:33179741
1688:35434775
1605:19424484
1532:16759428
1506:(1): 2.
1478:27648474
1427:24600296
1376:22445133
1350:(1): 7.
1297:26083538
1095:26046072
1016:29763083
930:Kyphosis
919:See also
750:clubfoot
608:missense
455:FLJ41350
237:Genetics
100:Duration
62:Symptoms
3509:3175878
3437:3762929
3414:Bibcode
3346:6488972
3303:4690498
3269:7466459
3231:3566248
3188:2781798
3066:1501058
2941:3566258
2892:8097957
2566:4160470
2513:5571670
2462:4941158
2413:4159151
2317:6177404
2296:Bibcode
2260:4573260
2146:2661236
2095:8670502
2040:4900236
1946:7533298
1893:4365504
1872:Bibcode
1836:1852746
1787:9118580
1736:7823110
1596:2674301
1523:1475645
1469:5016859
1418:3912852
1367:3410782
1288:4530852
1086:4437945
530:SLC39A8
491:Chinese
128:factors
122:Genetic
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1285:
1138:ApiFix
1093:
1083:
1014:
913:anemia
473:GPR126
229:Causes
219:severe
108:Causes
3541:Spine
3389:S2CID
3365:Spine
3249:Spine
3020:S2CID
2366:S2CID
2342:Spine
1991:S2CID
1942:S2CID
1692:S2CID
729:AKAP2
606:, or
484:trunk
3514:PMID
3471:PMID
3442:PMID
3381:PMID
3351:PMID
3308:PMID
3265:PMID
3236:PMID
3193:PMID
3137:PMID
3071:PMID
3012:PMID
2977:PMID
2946:PMID
2897:PMID
2846:PMID
2781:PMID
2769:ISSN
2627:PMID
2571:PMID
2518:PMID
2467:PMID
2418:PMID
2358:PMID
2322:PMID
2265:PMID
2192:PMID
2151:PMID
2100:PMID
2066:LBX1
2045:PMID
1983:PMID
1934:PMID
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1841:PMID
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1741:PMID
1684:PMID
1601:PMID
1528:PMID
1474:PMID
1423:PMID
1372:PMID
1293:PMID
1091:PMID
1012:PMID
856:MRIs
675:FBN2
573:FBN1
548:NTF3
515:BNC2
441:LBX1
426:PAX1
247:CHD7
215:mild
170:Good
124:and
3504:PMC
3496:doi
3463:doi
3432:PMC
3422:doi
3373:doi
3341:PMC
3333:doi
3298:PMC
3290:doi
3257:doi
3226:PMC
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