64:
88:
514:
Patients may have numerous BCCs which can be treated surgically or in some patients, with topical medications. The severity of the basal-cell carcinoma determines the prognosis for most patients. Individually, BCCs rarely cause gross disfigurement, disability or death, but the scar burden and ongoing
506:
the condition. Having a multidisciplinary medical team is important for managing the symptoms, preventing new tumors, and providing support. Many people with NBCCS see a number of physicians and medical professionals on a regular basis including a primary care physician, dermatologist, cardiologist,
489:
is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected. Genetic testing is a sufficient way to confirm the diagnosis when there is suspicion but a lack of clinical diagnostic criteria. It is also beneficial for prenatal testing when
522:
Proper sun protection is extremely important for patients with suspected and confirmed diagnoses of NBCCS. Patients and their families should monitor for signs of NBCCS including developmental delays, abnormal skin lesions, and odontogenic keratocysts in between visits with their multidisciplinary
349:
The most common diagnosing physicians are oral surgeons and dermatologists. However, a NBCCS diagnosis can also be made by geneticists, dentists, orthodontists, primary care physicians, Mohs surgeons, and oncologists. Though not inclusive, this list includes most of the diagnosing healthcare
531:
NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in
Australia. One aspect of NBCCS is that basal-cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of
477:
People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving
549:
The Gorlin
Syndrome Alliance (GSA) is an organization designed to raise awareness and connect those with NBCCS or those who know someone with NBCCS. Within the entirety of the GSA community, there is a great amount of support, education, and drive for furthering research.
153:
condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000–164,000 population. Recent work in
473:
The first presentation of NBCCS is often odontogenic keratocysts that begin to occur, on average, around 13 years of age. Other common initial presentations include multiple BCCs before the age of 20 and medulloblastoma occurring around the age of two.
540:
pits. One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.
574:
316:
codes for the suppressor of fused and inhibits the Hh signaling pathway further downstream by binding to glioma-associated (GLI) transcription factors to prevent translocation to the nucleus. Mutations of
482:
for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.
188:
is important in regulating cell division and growth, thus mutations in this gene can impact tumor growth. Children who inherit the defective gene from either parent will also have the disorder.
206:: a benign tumor of the jawbone. Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 years average).
564:
569:
1270:
766:
Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, et al. (June 1996). "Human homolog of patched, a candidate gene for the basal cell nevus syndrome".
1762:
507:
oral surgeon, therapist, plastic surgeon, neurologist, and gynecologist. Building a medical care team provides patients with the tools for managing their condition.
304:(Hh) signaling pathway. The Hedgehog signaling pathway, which promotes cell proliferation and differentiation, is involved in more than 50% of cancers. Mutations in
1979:
1898:
1618:
1263:
1322:
146:(1923–2006). The American dermatologist Robert W. Goltz (1923–2014) was his co-author, which is the basis for the term 'Gorlin-Goltz syndrome'.
2065:
1363:
2060:
1779:
1256:
611:
1775:
1347:
2028:
1804:
1679:
1645:
1430:
1864:
1407:
1358:
341:
mutation. Another 30% obtain a spontaneous, non-inherited mutation of the affected gene resulting in the development of NBCCS.
135:(BCCs). Only about 10% of people with the condition do not develop BCCs; the vast majority of patients develop numerous BCCs.
124:. People with NBCCS are prone to developing various cancers, including a common and usually non-life-threatening form of non-
2085:
1816:
1683:
1659:
2070:
1919:
1881:
1476:
1453:
533:
1572:
1544:
1528:
1157:
333:
mutations are associated with medulloblastoma, a diagnostic criteria for NBCCS. Up to 70% of people with NBCCS inherit a
1654:
1991:
1767:
1327:
1852:
1840:
511:
Enucleation of the odontogenic cysts can help, but new lesions, infections and jaw deformity are usually a result.
2039:
1969:
1722:
1335:
17:
2075:
1790:
1634:
1606:
1395:
731:
Gorlin RJ, Goltz RW (May 1960). "Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome".
296:), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome.
1974:
1937:
1903:
830:
Verkouteren BJ, Cosgun B, Reinders MG, Kessler PA, Vermeulen RJ, Klaassens M, et al. (February 2022).
559:
2016:
1079:
Cohen B, Weiss G, Yin H (September 2000). "Basal cell carcinoma (BCC) causing spinal cord compression".
1954:
1891:
1737:
1565:
1553:
1288:
896:"Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones"
301:
246:
1828:
1402:
1383:
1315:
300:
codes for a transmembrane receptor that recognizes the Sonic
Hedgehog ligand (SHH) and represses the
87:
1745:
1697:
1507:
1448:
1168:
418:
104:) is a rare inherited medical condition involving defects within multiple body systems such as the
2080:
1750:
1585:
696:
Burgdorf WH, Padilla RS, Hordinsky M (October 2014). "In memoriam: Robert W. Goltz (1923-2014)".
594:
Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. (March 1997).
1497:
1491:
1331:
832:"A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome)"
379:
242:
203:
1208:
1958:
1351:
1279:
388:
1379:
1310:
775:
499:
422:
171:
132:
8:
1693:
1689:
1370:
63:
779:
1667:
963:
946:
922:
895:
856:
831:
799:
486:
433:
155:
150:
1055:
575:
List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
1708:
1581:
1557:
1537:
1533:
1248:
1179:
1096:
968:
927:
861:
791:
748:
713:
657:
615:
479:
200:
Multiple basal-cell carcinomas of the skin, most commonly on the face, hands or neck.
76:
1010:
986:
455:, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
1601:
1596:
1561:
1521:
1293:
1219:
1088:
958:
917:
907:
851:
843:
803:
783:
740:
705:
681:
Burgdorf W (2008). "Robert J. Gorlin (1923 – 2006).". In Löser C, Plewig G (eds.).
607:
437:
143:
117:
81:
1243:
787:
596:"Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome"
1589:
1173:
466:
263:
257:
234:
744:
1915:
1823:
1755:
1577:
1549:
1238:
912:
709:
649:
273:
223:
109:
1233:
1184:
2054:
1923:
1613:
1375:
452:
445:
238:
181:
612:
10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M
1932:
1859:
1342:
1100:
972:
931:
894:
Spadari F, Pulicari F, Pellegrini M, Scribante A, Garagiola U (July 2022).
865:
752:
717:
661:
412:
392:
329:
consequently becomes activated and GLI can be translocated to the nucleus.
250:
227:
795:
619:
196:
Some or all of the following may be seen in someone with Gorlin syndrome:
1203:
128:
1149:
1630:
1092:
441:
309:
279:
167:
113:
105:
847:
1847:
1835:
1811:
1234:
GeneReviews/NCBI/NIH/UW entry on Nevoid Basal Cell
Carcinoma Syndrome
1214:
219:
595:
1965:
1799:
1671:
426:
269:
125:
947:"Hedgehog signalling pathway: carcinogenesis and targeted therapy"
893:
565:
List of radiographic findings associated with cutaneous conditions
570:
List of dental abnormalities associated with cutaneous conditions
537:
469:(the latter is generally found in children below the age of two).
462:
458:
376:
more than 2 BCCs or 1 BCC in a person younger than 20 years;
1162:
829:
2011:
1717:
1675:
1114:
944:
2023:
1999:
1625:
1425:
1390:
945:
Ebrahimi A, Larijani L, Moradi A, Ebrahimi MR (Winter 2013).
292:
163:
142:
refers to the
American oral pathologist and human geneticist
593:
1986:
1910:
1886:
1516:
1471:
1034:
503:
502:, that is, treatment to reduce any symptoms rather than to
176:
121:
184:, though some patients do not have either known mutation.
765:
149:
First described in 1960 by Gorlin and Goltz, NBCCS is an
695:
290:
Mutations in the human homologue of
Drosophila patched (
209:
Pits on the soles of the feet and palms of their hands.
1278:
1980:
Junctional epidermolysis bullosa with pyloric atresia
1239:
GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion
1139:
647:
825:
823:
821:
819:
817:
815:
813:
451:radiologic abnormalities, such as bridging of the
391:or early (<20 years) calcification of the
158:has shown NBCCS to be caused by mutations in the
2052:
1619:Congenital insensitivity to pain with anhidrosis
900:Maxillofacial Plastic and Reconstructive Surgery
810:
656:. Treasure Island (FL): StatPearls Publishing.
889:
887:
885:
883:
881:
879:
877:
875:
698:Journal of the American Academy of Dermatology
1264:
1078:
643:
641:
639:
637:
635:
633:
631:
629:
1364:Gonadotropin-releasing hormone insensitivity
325:is mutated, and SMO is no longer inhibited,
1780:Congenital amegakaryocytic thrombocytopenia
872:
759:
730:
689:
587:
312:(SMO) and upregulate the Hedgehog pathway.
1865:Autoimmune lymphoproliferative syndrome 1A
1348:Follicle-stimulating hormone insensitivity
1271:
1257:
724:
626:
425:, frontal bossing, eye anomaly (cataract,
86:
62:
2029:X-linked severe combined immunodeficiency
1805:TNF receptor associated periodic syndrome
962:
921:
911:
855:
685:. Heidelberg: Springer. pp. 362–366.
490:there is a know family history of NBCCS.
680:
648:Spiker AM, Troxell T, Ramsey ML (2024).
498:Treatment is usually multidisciplinary,
1817:Selective immunoglobulin A deficiency 2
1408:Aspirin-exacerbated respiratory disease
14:
2053:
1992:EDAR hypohidrotic ectodermal dysplasia
1920:Familial exudative vitreoretinopathy 4
1477:Familial exudative vitreoretinopathy 1
515:development of BCCs may be significant
432:other skeletal abnormalities, such as
48:Multiple basal-cell carcinoma syndrome
1684:Hereditary hemorrhagic telangiectasia
1660:Persistent MĂĽllerian duct syndrome II
1431:Jansen's metaphyseal chondrodysplasia
1252:
353:Diagnosis of NBCCS is made by having
321:are also correlated with NBCCS. When
191:
2066:Epidermal nevi, neoplasms, and cysts
2005:Nevoid basal-cell carcinoma syndrome
1454:Familial hypocalciuric hypercalcemia
1244:US National Library of Medicine page
951:Iranian Journal of Cancer Prevention
600:American Journal of Medical Genetics
98:Nevoid basal-cell carcinoma syndrome
35:Nevoid basal-cell carcinoma syndrome
1768:Surfactant metabolism dysfunction 4
733:The New England Journal of Medicine
24:
2061:Cell surface receptor deficiencies
2017:BMPR1A juvenile polyposis syndrome
1938:LDLR Familial hypercholesterolemia
836:The British Journal of Dermatology
25:
2097:
1328:Luteinizing hormone insensitivity
1135:
400:first-degree relative with NBCCS.
337:mutation and around 4% inherit a
268:ocular abnormalities: cataracts,
1396:Nephrogenic diabetes insipidus 1
385:3 or more palmar or plantar pits
308:could reverse its inhibition of
1336:Male-limited precocious puberty
1107:
1072:
1048:
1027:
1003:
979:
1723:Leber's congenital amaurosis 1
1635:Gastrointestinal stromal tumor
1035:"Home - Gorlin Syndrome Group"
938:
674:
230:(diagnosed with AP radiograph)
13:
1:
788:10.1126/science.272.5268.1668
580:
429:, microphthalmia, nystagmus).
397:bifid, fused, or splayed ribs
237:and temporoparietal bossing,
2086:Syndromes affecting the skin
560:List of cutaneous conditions
544:
526:
493:
344:
7:
2071:Syndromes with macrocephaly
1316:Congenital hypothyroidism 1
745:10.1056/NEJM196005052621803
553:
212:Rib and vertebrae anomalies
10:
2102:
1975:Glanzmann's thrombasthenia
1955:Immunoglobulin superfamily
1607:Rabson–Mendenhall syndrome
1289:G protein-coupled receptor
1115:"Gorlin Syndrome Alliance"
1081:Dermatology Online Journal
913:10.1186/s40902-022-00355-5
710:10.1016/j.jaad.2014.04.057
372:consist of the following:
215:Intracranial calcification
1947:
1874:
1829:Hyper-IgM syndrome type 3
1789:
1736:
1707:
1644:
1506:
1490:
1463:
1440:
1417:
1302:
1287:
1194:
1143:
1056:"Building Your Care Team"
683:Pantheon der Dermatologie
226:, early calcification of
75:
70:
61:
44:Basal-cell nevus syndrome
39:
34:
1904:Cenani–Lenz syndactylism
1746:Type I cytokine receptor
1384:Hirschsprung's disease 2
1119:Gorlin Syndrome Alliance
1060:Gorlin Syndrome Alliance
1015:Gorlin Syndrome Alliance
991:Gorlin Syndrome Alliance
419:congenital malformations
285:
218:Skeletal abnormalities:
71:Adult patient with NBCCS
1586:Thanatophoric dysplasia
1380:Waardenburg syndrome 4a
1011:"Patient Impact Report"
987:"About Gorlin Syndrome"
408:include the following:
380:odontogenic keratocysts
180:gene on chromosome arm
2040:cell surface receptors
1892:Donnai–Barrow syndrome
1566:Jackson–Weiss syndrome
1554:Antley–Bixler syndrome
1538:KAL2 Kallmann syndrome
1492:Enzyme-linked receptor
1332:Leydig cell hypoplasia
243:mandibular prognathism
204:Odontogenic keratocyst
2076:Syndromes with tumors
1352:XX gonadal dysgenesis
1280:Cell surface receptor
389:ectopic calcification
133:basal-cell carcinomas
56:Gorlin–Goltz syndrome
1698:Loeys–Dietz syndrome
500:supportive treatment
780:1996Sci...272.1668J
774:(5268): 1668–1671.
423:cleft lip or palate
247:cleft lip or palate
1668:TGF beta receptors
1195:External resources
1093:10.5070/D32dj657jt
518:Genetic counseling
487:Genetic counseling
434:Sprengel deformity
363:two minor criteria
355:two major criteria
192:Signs and symptoms
156:molecular genetics
151:autosomal dominant
2048:
2047:
1732:
1731:
1582:Hypochondroplasia
1558:Pfeiffer syndrome
1534:Pfeiffer syndrome
1486:
1485:
1229:
1228:
848:10.1111/bjd.20700
650:"Gorlin Syndrome"
480:Radiation therapy
95:
94:
29:Medical condition
16:(Redirected from
2093:
1602:Donohue syndrome
1562:Crouzon syndrome
1522:Robinow syndrome
1504:
1503:
1300:
1299:
1273:
1266:
1259:
1250:
1249:
1141:
1140:
1129:
1128:
1126:
1125:
1111:
1105:
1104:
1076:
1070:
1069:
1067:
1066:
1052:
1046:
1045:
1043:
1042:
1031:
1025:
1024:
1022:
1021:
1007:
1001:
1000:
998:
997:
983:
977:
976:
966:
942:
936:
935:
925:
915:
891:
870:
869:
859:
827:
808:
807:
763:
757:
756:
728:
722:
721:
693:
687:
686:
678:
672:
671:
669:
668:
645:
624:
623:
591:
438:pectus deformity
264:cardiac fibromas
258:ovarian fibromas
233:Distinct faces:
166:) gene found on
144:Robert J. Gorlin
118:endocrine system
91:
90:
82:Medical genetics
66:
32:
31:
21:
2101:
2100:
2096:
2095:
2094:
2092:
2091:
2090:
2051:
2050:
2049:
2044:
1948:Other/ungrouped
1943:
1924:Osteopetrosis 1
1870:
1785:
1728:
1703:
1640:
1590:Muenke syndrome
1496:
1494:
1482:
1459:
1436:
1413:
1291:
1283:
1277:
1230:
1225:
1224:
1190:
1189:
1152:
1138:
1133:
1132:
1123:
1121:
1113:
1112:
1108:
1077:
1073:
1064:
1062:
1054:
1053:
1049:
1040:
1038:
1033:
1032:
1028:
1019:
1017:
1009:
1008:
1004:
995:
993:
985:
984:
980:
943:
939:
892:
873:
828:
811:
764:
760:
739:(18): 908–912.
729:
725:
694:
690:
679:
675:
666:
664:
646:
627:
592:
588:
583:
556:
547:
529:
496:
467:medulloblastoma
440:, polydactyly,
347:
288:
194:
140:Gorlin syndrome
85:
52:Gorlin syndrome
30:
23:
22:
18:Gorlin syndrome
15:
12:
11:
5:
2099:
2089:
2088:
2083:
2081:Rare syndromes
2078:
2073:
2068:
2063:
2046:
2045:
2043:
2042:
2037:
2033:
2032:
2020:
2008:
1983:
1982:
1977:
1972:
1962:
1961:
1951:
1949:
1945:
1944:
1942:
1941:
1928:
1927:
1916:Worth syndrome
1907:
1895:
1878:
1876:
1875:Lipid receptor
1872:
1871:
1869:
1868:
1856:
1844:
1832:
1820:
1808:
1795:
1793:
1787:
1786:
1784:
1783:
1772:
1771:
1759:
1756:Laron syndrome
1742:
1740:
1734:
1733:
1730:
1729:
1727:
1726:
1713:
1711:
1705:
1704:
1702:
1701:
1687:
1664:
1663:
1650:
1648:
1642:
1641:
1639:
1638:
1631:KIT Piebaldism
1622:
1610:
1604:
1593:
1578:Achondroplasia
1569:
1550:Apert syndrome
1541:
1525:
1512:
1510:
1501:
1488:
1487:
1484:
1483:
1481:
1480:
1467:
1465:
1461:
1460:
1458:
1457:
1444:
1442:
1438:
1437:
1435:
1434:
1421:
1419:
1415:
1414:
1412:
1411:
1399:
1387:
1367:
1355:
1339:
1319:
1306:
1304:
1297:
1285:
1284:
1276:
1275:
1268:
1261:
1253:
1247:
1246:
1241:
1236:
1227:
1226:
1223:
1222:
1211:
1199:
1198:
1196:
1192:
1191:
1188:
1187:
1176:
1165:
1153:
1148:
1147:
1145:
1144:Classification
1137:
1136:External links
1134:
1131:
1130:
1106:
1071:
1047:
1026:
1002:
978:
937:
871:
842:(2): 215–226.
809:
758:
723:
688:
673:
625:
606:(3): 299–308.
585:
584:
582:
579:
578:
577:
572:
567:
562:
555:
552:
546:
543:
528:
525:
520:
519:
516:
512:
495:
492:
471:
470:
456:
449:
430:
416:
406:minor criteria
402:
401:
398:
395:
386:
383:
377:
370:major criteria
346:
343:
287:
284:
283:
282:
277:
274:microphthalmia
266:
260:
254:
231:
224:kyphoscoliosis
216:
213:
210:
207:
201:
193:
190:
110:nervous system
93:
92:
79:
73:
72:
68:
67:
59:
58:
41:
37:
36:
28:
9:
6:
4:
3:
2:
2098:
2087:
2084:
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2079:
2077:
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2064:
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2018:
2014:
2013:
2009:
2006:
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2001:
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450:
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239:hypertelorism
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1791:TNF receptor
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1282:deficiencies
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1118:
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1059:
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653:
603:
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472:
413:macrocephaly
405:
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393:falx cerebri
369:
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262:10% develop
251:macrocephaly
228:falx cerebri
195:
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1292:(including
1204:MedlinePlus
461:and cardio
350:providers.
280:meningiomas
129:skin cancer
40:Other names
2055:Categories
1495:(including
1180:DiseasesDB
1124:2024-04-11
1065:2024-04-11
1041:2024-04-11
1020:2024-04-11
996:2024-04-11
667:2024-04-11
654:StatPearls
581:References
442:syndactyly
421:, such as
382:of the jaw
310:smoothened
256:Bilateral
220:bifid ribs
168:chromosome
1848:TNFRSF13B
1836:TNFRSF13C
1812:TNFRSF13B
1215:eMedicine
1087:(1): 12.
906:(1): 25.
545:Resources
527:Incidence
494:Treatment
359:one major
345:Diagnosis
138:The name
77:Specialty
2036:See also
1966:Integrin
1800:TNFRSF1A
1738:JAK-STAT
1672:Endoglin
1220:derm/291
1101:11328622
973:25250108
932:35843976
866:34375441
753:13851319
718:25349877
662:28613671
554:See also
427:coloboma
302:Hedgehog
270:coloboma
126:melanoma
1959:AGM3, 6
1860:TNFRSF6
1824:TNFRSF5
1464:Class F
1441:Class C
1418:Class B
1303:Class A
1294:hormone
1174:D001478
964:4142901
923:9288940
857:9298899
804:9160210
796:8658145
776:Bibcode
768:Science
620:9096761
538:plantar
463:fibroma
459:ovarian
235:Frontal
164:Patched
131:called
2012:BMPR1A
1763:CSF2RA
1718:GUCY2D
1694:TGFBR2
1690:TGFBR1
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249:, and
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2000:PTCH1
1853:CVID2
1841:CVID4
1680:SMAD4
1676:Alk-1
1655:AMHR2
1614:NTRK1
1573:FGFR3
1545:FGFR2
1529:FGFR1
1426:PTH1R
1391:AVPR2
1371:EDNRB
1359:GnRHR
1323:LHCGR
800:S2CID
335:PTCH1
323:PTCH1
306:PTCH1
298:PTCH1
293:PTCH1
286:Cause
122:bones
102:NBCCS
1987:EDAR
1970:LAD1
1933:LDLR
1911:LRP5
1899:LRP4
1887:LRP2
1646:STPK
1597:INSR
1517:ROR2
1472:FZD4
1449:CASR
1343:FSHR
1311:TSHR
1185:5370
1169:MeSH
1158:OMIM
1097:PMID
969:PMID
928:PMID
862:PMID
792:PMID
749:PMID
714:PMID
658:PMID
616:PMID
536:and
504:cure
404:The
368:The
361:and
339:SUFU
331:SUFU
327:SUFU
319:SUFU
314:SUFU
186:PTCH
177:SUFU
170:arm
160:PTCH
114:eyes
106:skin
1882:LRP
1776:MPL
1626:KIT
1508:RTK
1089:doi
959:PMC
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908:doi
852:PMC
844:doi
840:186
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