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42:
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1051:
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971:
660:
A. Buschke, H. Ollendorff-Curth. Ein Fall von
Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.
848:
Pope, V.; Dupuis, L.; Kannu, P.; Mendoza-Londono, R.; Sajic, D.; So, J.; Yoon, G.; Lara-Corrales, I. (2016). "Buschke-Ollendorff syndrome: a novel case series and systematic review".
1684:
1958:
1920:
423:. In Hoeger, Peter H.; Kinsler, Veronica; Yan, Albert C.; Bodemer, Christine; Larralde, Margarita; Luk, David; Mendiratta, Vibhu; Purvis, Diana (eds.).
1320:
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152:
Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. It is named for
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2004:
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782:"Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues"
130:
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LEMD3 once mutated, causes a reduction of the protein, which in turn causes excess of the above two pathways.
1066:
350:
The differential diagnosis for an individual believed to have
Buschke–Ollendorff syndrome is the following:
2632:
1443:
1377:
1189:
391:
176:
The signs and symptoms of this condition are consistent with the following (possible complications include
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1263:
1240:
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1141:
1034:
489:
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1842:
1823:
1740:
893:
Helander, Martti
Kormano, Ilmari Lindgren; with the collaboration of Inkeri; Lindgren, Ilmari (1999).
674:
454:"Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program"
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1936:
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1199:
157:
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Among the important aspects of
Buschke–Ollendorff syndrome condition, genetically speaking are:
2049:
1997:
1589:
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1146:
420:
262:
576:
575:
James, William D.; Elston, Dirk; Treat, James R.; Rosenbach, Misha A.; Neuhaus, Isaac (2020).
2700:
2586:
2559:
2532:
2484:
2438:
2133:
1848:
1336:
1194:
1151:
323:
The diagnosis of this condition can be ascertained via several techniques one such method is
242:
Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene.
2720:
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2547:
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2123:
359:
8:
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428:
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In terms of the treatment of
Buschke–Ollendorff syndrome, should the complication of
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2447:
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2155:
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811:
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698:
Worman, Howard J.; Fong, Loren G.; Muchir, Antoine; Young, Stephen G. (July 2009).
633:
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780:
Hosen, Mohammad J.; Lamoen, Anouck; De Paepe, Anne; Vanakker, Olivier M. (2012).
376:
324:
202:
177:
153:
421:"95. Buschke–Ollendorff syndrome, Marfan's syndrome and osteogenesis imperfecta"
307:
268:
LEMD3 gene gives instructions for producing protein that controls signaling for
2622:
2576:
2389:
2319:
2138:
1866:
1363:
1184:
1010:
832:
621:
354:
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2494:
2489:
2351:
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2194:
1585:
1115:
869:
807:
723:
629:
700:"Laminopathies and the long strange trip from basic cell biology to therapy"
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2013:
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382:
Treatment for hearing loss may also require surgical intervention.
127:
50:
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2175:
2143:
2036:
1916:
1833:
1813:
1709:
1300:
120:
63:
49:
Buschke–Ollendorff syndrome has an autosomal dominant pattern of
988:
563:
1732:
1538:
1166:
975:
942:
146:
847:
1507:
1503:
1499:
1255:
1133:
896:
Radiological findings in skin diseases and related conditions
331:
116:
84:
16:
Genetic disorder involving small, painless lumps on the skin
1982:
1953:
1685:
Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
779:
258:
606:"Helen Ollendorff-Curth: A dermatologist's lasting legacy"
1959:
Microcephalic osteodysplastic primordial dwarfism type II
574:
540:
293:
604:
Guzman, Anthony K.; James, William D. (September 2016).
583:(13th ed.). Edinburgh: Elsevier. pp. 614–615.
1921:
Epidermolysis bullosa simplex with muscular dystrophy
697:
311:
Microscope with stained slide (histological specimen)
160:, who described the condition in one female in 1928.
953:
581:
133:manner. Conditions that may appear similar include
1321:Terminal osseous dysplasia with pigmentary defects
119:that typically presents with widespread painless
2813:
892:
773:
668:
666:
536:
1454:Meesmann juvenile epithelial corneal dystrophy
1404:Meesmann juvenile epithelial corneal dystrophy
1998:
1091:
1942:Arrhythmogenic right ventricular dysplasia 9
1910:Arrhythmogenic right ventricular dysplasia 8
926:: CS1 maint: multiple names: authors list (
663:
610:International Journal of Women's Dermatology
414:
412:
410:
408:
406:
1523:Reticular pigmented anomaly of the flexures
603:
513:: CS1 maint: numeric names: authors list (
2287:Reproductive endocrinology and infertility
2005:
1991:
1098:
1084:
425:Harper's Textbook of Pediatric Dermatology
98:Surgery for hearing loss(or complications)
40:
2628:Bachelor of Medicine, Bachelor of Surgery
833:Creative Commons Attribution 3.0 Unported
815:
797:
731:
637:
597:
568:
403:
345:
282:Both of the above pathways help grow new
1518:Naegeli–Franceschetti–Jadassohn syndrome
1105:
314:
306:
247:
167:
34:Dermatofibrosis lenticularis disseminata
490:"Orphanet: Buschke Ollendorff syndrome"
427:. John Wiley & Sons. p. 1139.
2814:
532:
530:
528:
526:
524:
483:
481:
479:
418:
1986:
1926:Epidermolysis bullosa simplex of Ogna
1195:DFN A3, 4, 11, 17, 22; B2, 30, 37, 48
1079:
754:
704:The Journal of Clinical Investigation
672:
488:RESERVED, INSERM US14 -- ALL RIGHTS.
448:
446:
444:
163:
2766:
2527:Physical medicine and rehabilitation
1543:Desmin-related myofibrillar myopathy
1180:Hypertrophic cardiomyopathy 1, 8, 10
577:"28. Dermal and subcutaneous tumors"
487:
379:occur then surgery may be required.
2776:
1635:Emery–Dreifuss muscular dystrophy 2
560:Online Mendelian Inheritance in Man
553:
521:
476:
13:
2663:Medical Scientist Training Program
1900:Striate palmoplantar keratoderma 2
1595:Charcot–Marie–Tooth disease 1F, 2E
1373:Striate palmoplantar keratoderma 3
850:The British Journal of Dermatology
841:
441:
14:
2853:
1751:Asphyxiating thoracic dysplasia 3
1640:Limb-girdle muscular dystrophy 1B
935:
257:LEMD3 (protein) referred also as
2795:
2785:
2775:
2765:
2756:
2755:
1746:Short rib-polydactyly syndrome 3
1723:Hereditary spastic paraplegia 10
1218:Hypertrophic cardiomyopathy 7, 2
1049:
941:
419:Lacour, Marc (4 December 2019).
288:BMP and TGF-β pathways controls
2832:Dermal and subcutaneous growths
2796:
1645:Charcot–Marie–Tooth disease 2B1
748:
691:
537:Lukasz Matusiak (2 July 2008),
270:transforming growth factor-beta
237:
2653:Doctor of Osteopathic Medicine
2087:Oral and maxillofacial surgery
1854:Familial adenomatous polyposis
1808:Hereditary elliptocytosis 2, 3
1718:Charcot–Marie–Tooth disease 2A
1630:Familial partial lipodystrophy
1142:Hypertrophic cardiomyopathy 11
654:
1:
1803:Hereditary spherocytosis 2, 3
1772:Cavernous venous malformation
1600:Amyotrophic lateral sclerosis
1570:Amyotrophic lateral sclerosis
1474:Epidermolysis bullosa simplex
1424:Epidermolysis bullosa simplex
1394:Ichthyosis bullosa of Siemens
1264:Hypertrophic cardiomyopathy 9
1241:Hypertrophic cardiomyopathy 3
675:"Buschke-Ollendorff syndrome"
397:
261:, is an important protein in
2822:Autosomal dominant disorders
2633:Bachelor of Medical Sciences
2400:Neurosurgical anesthesiology
2012:
1444:Epidermolytic hyperkeratosis
1378:Epidermolytic hyperkeratosis
392:List of cutaneous conditions
370:
302:
74:Mutations in the LEMD3 gene.
7:
1665:Buschke–Ollendorff syndrome
1067:Buschke–Ollendorff syndrome
948:Buschke–Ollendorff syndrome
385:
105:Buschke–Ollendorff syndrome
10:
2858:
1824:Hereditary spherocytosis 1
1741:Primary ciliary dyskinesia
1147:Dilated cardiomyopathy 1AA
755:Reference, Genetics Home.
673:Reference, Genetics Home.
622:10.1016/j.ijwd.2016.06.002
2751:
2673:
2611:
2372:
2300:
2255:
2164:
2035:
2020:
1968:
1888:
1832:
1784:
1759:
1731:
1708:
1699:
1655:Barraquer–Simons syndrome
1608:
1578:
1548:Dilated cardiomyopathy 1I
1531:
1344:
1335:
1294:Weill–Marchesani syndrome
1276:
1254:
1231:
1208:
1165:
1132:
1123:
1114:
1020:
957:
458:rarediseases.info.nih.gov
94:
78:
70:
57:
48:
39:
29:
24:
2587:Transplantation medicine
2478:Clinical neurophysiology
2395:Obstetric anesthesiology
2315:Interventional radiology
2075:Digestive system surgery
1798:Spinocerebellar ataxia 5
1622:Mandibuloacral dysplasia
1190:Freeman–Sheldon syndrome
277:bone morphogenic protein
275:LEMD3 gene helps in the
139:pseudoxanthoma elasticum
2458:Intensive care medicine
2432:Mass gathering medicine
2277:Maternal–fetal medicine
1937:Skin fragility syndrome
1879:Giant axonal neuropathy
1484:Steatocystoma multiplex
761:Genetics Home Reference
679:Genetics Home Reference
158:Helene Ollendorff Curth
25:Buschke–Ollendorff sign
2050:Cardiothoracic surgery
1223:Nemaline myopathy 4, 5
346:Differential diagnosis
320:
312:
263:inner nuclear membrane
253:
173:
126:It is inherited in an
2701:Personalized medicine
2560:Reproductive medicine
2485:Occupational medicine
2439:Evolutionary medicine
1973:Cytoskeletal proteins
899:. Stuttgart: Thieme.
319:Histopathology of BOS
318:
310:
292:, which then bind to
251:
171:
113:genetic skin disorder
2837:Cytoskeletal defects
2721:Traditional medicine
2681:Alternative medicine
2548:Addiction psychiatry
2362:Transfusion medicine
2357:Medical microbiology
2272:Gynecologic oncology
2124:Reproductive surgery
950:at Wikimedia Commons
2743:History of medicine
2726:Veterinary medicine
2533:Preventive medicine
2385:Adolescent medicine
2227:Infectious diseases
1680:Pelger–Huet anomaly
1590:Parkinson's disease
1311:Boomerang dysplasia
1246:Nemaline myopathy 1
1200:May–Hegglin anomaly
1157:Nemaline myopathy 3
799:10.6064/2012/598262
2691:Molecular oncology
2648:Doctor of Medicine
2638:Master of Medicine
2555:Radiation oncology
2427:Emergency medicine
2380:Addiction medicine
2347:Clinical chemistry
2342:Clinical pathology
2134:Transplant surgery
2092:Orthopedic surgery
2070:Colorectal surgery
1849:Gardner's syndrome
1818:Long QT syndrome 4
1494:Familial cirrhosis
1464:White sponge nevus
1434:Familial cirrhosis
1414:White sponge nevus
1021:External resources
321:
313:
254:
174:
164:Signs and symptoms
135:tuberous sclerosis
2809:
2808:
2643:Master of Surgery
2607:
2606:
2592:Tropical medicine
2538:Prison healthcare
2453:Hospital medicine
2417:Disaster medicine
2407:Aviation medicine
2222:Hospital medicine
2129:Surgical oncology
2114:Pediatric surgery
2108:
2055:Endocrine surgery
1980:
1979:
1905:Carvajal syndrome
1780:
1779:
1695:
1694:
1559:Alexander disease
1331:
1330:
1272:
1271:
1185:Usher syndrome 1B
1175:Elejalde syndrome
1044:
1043:
946:Media related to
862:10.1111/bjd.14366
590:978-0-323-54753-6
434:978-1-119-14280-5
341:Histological test
211:Connective tissue
102:
101:
80:Diagnostic method
19:Medical condition
2849:
2799:
2798:
2789:
2779:
2778:
2769:
2768:
2759:
2758:
2463:Medical genetics
2448:General practice
2325:Nuclear medicine
2200:Gastroenterology
2156:Vascular surgery
2106:
2033:
2032:
2007:
2000:
1993:
1984:
1983:
1971:Related topics:
1706:
1705:
1342:
1341:
1130:
1129:
1121:
1120:
1100:
1093:
1086:
1077:
1076:
1053:
1052:
955:
954:
945:
931:
925:
917:
915:
913:
889:
836:
829:
819:
801:
777:
771:
770:
768:
767:
752:
746:
745:
735:
716:10.1172/JCI37679
710:(7): 1825–1836.
695:
689:
688:
686:
685:
670:
661:
658:
652:
651:
641:
601:
595:
594:
572:
566:
557:
551:
550:
549:
548:
534:
519:
518:
512:
504:
502:
500:
485:
474:
473:
471:
469:
460:. Archived from
450:
439:
438:
416:
149:, among others.
115:associated with
44:
22:
21:
2857:
2856:
2852:
2851:
2850:
2848:
2847:
2846:
2812:
2811:
2810:
2805:
2747:
2736:Chief physician
2669:
2614:
2603:
2597:Travel medicine
2582:Sports medicine
2565:Sexual medicine
2505:Palliative care
2500:Pain management
2444:Family medicine
2422:Diving medicine
2368:
2296:
2258:
2251:
2167:
2160:
2119:Plastic surgery
2065:General surgery
2045:Cardiac surgery
2026:
2024:
2016:
2011:
1981:
1976:
1964:
1884:
1828:
1776:
1755:
1727:
1691:
1670:Osteopoikilosis
1604:
1574:
1527:
1327:
1316:Larsen syndrome
1289:Marfan syndrome
1268:
1250:
1227:
1204:
1161:
1110:
1104:
1074:
1073:
1072:
1054:
1050:
1045:
1040:
1039:
1016:
1015:
966:
938:
919:
918:
911:
909:
907:
844:
842:Further reading
839:
830:
778:
774:
765:
763:
753:
749:
696:
692:
683:
681:
671:
664:
659:
655:
602:
598:
591:
573:
569:
558:
554:
546:
544:
535:
522:
506:
505:
498:
496:
486:
477:
467:
465:
464:on 31 July 2018
452:
451:
442:
435:
417:
404:
400:
388:
377:aortic stenosis
373:
348:
325:genetic testing
305:
240:
203:Osteopoikilosis
178:aortic stenosis
172:Osteopoikilosis
166:
154:Abraham Buschke
20:
17:
12:
11:
5:
2855:
2845:
2844:
2842:Rare syndromes
2839:
2834:
2829:
2824:
2807:
2806:
2804:
2803:
2793:
2783:
2773:
2763:
2752:
2749:
2748:
2746:
2745:
2740:
2739:
2738:
2728:
2723:
2718:
2713:
2708:
2703:
2698:
2693:
2688:
2683:
2677:
2675:
2674:Related topics
2671:
2670:
2668:
2667:
2666:
2665:
2655:
2650:
2645:
2640:
2635:
2630:
2625:
2623:Medical school
2619:
2617:
2609:
2608:
2605:
2604:
2602:
2601:
2600:
2599:
2589:
2584:
2579:
2577:Sleep medicine
2574:
2573:
2572:
2562:
2557:
2552:
2551:
2550:
2540:
2535:
2530:
2524:
2519:
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2507:
2502:
2497:
2492:
2487:
2482:
2481:
2480:
2470:
2465:
2460:
2455:
2450:
2441:
2436:
2435:
2434:
2424:
2419:
2414:
2409:
2404:
2403:
2402:
2397:
2390:Anesthesiology
2387:
2382:
2376:
2374:
2370:
2369:
2367:
2366:
2365:
2364:
2359:
2354:
2349:
2344:
2339:
2329:
2328:
2327:
2322:
2320:Neuroradiology
2317:
2306:
2304:
2298:
2297:
2295:
2294:
2289:
2284:
2279:
2274:
2269:
2263:
2261:
2257:Obstetrics and
2253:
2252:
2250:
2249:
2244:
2239:
2234:
2229:
2224:
2219:
2214:
2209:
2208:
2207:
2197:
2192:
2187:
2182:
2172:
2170:
2162:
2161:
2159:
2158:
2153:
2152:
2151:
2141:
2139:Trauma surgery
2136:
2131:
2126:
2121:
2116:
2111:
2110:
2109:
2102:Otolaryngology
2099:
2094:
2089:
2084:
2079:
2078:
2077:
2072:
2062:
2057:
2052:
2047:
2041:
2039:
2030:
2028:subspecialties
2018:
2017:
2010:
2009:
2002:
1995:
1987:
1978:
1977:
1969:
1966:
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1962:
1945:
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1913:
1912:
1907:
1902:
1892:
1890:
1886:
1885:
1883:
1882:
1870:
1867:Naxos syndrome
1858:
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1811:
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1690:
1689:
1688:
1687:
1682:
1674:
1673:
1672:
1667:
1659:
1658:
1657:
1649:
1648:
1647:
1642:
1637:
1632:
1624:
1612:
1610:
1606:
1605:
1603:
1602:
1597:
1592:
1582:
1580:
1576:
1575:
1573:
1572:
1562:
1561:
1551:
1550:
1545:
1535:
1533:
1529:
1528:
1526:
1525:
1520:
1515:
1497:
1487:
1477:
1467:
1457:
1447:
1437:
1427:
1417:
1407:
1397:
1387:
1386:
1385:
1380:
1375:
1364:hyperkeratosis
1348:
1346:
1339:
1333:
1332:
1329:
1328:
1326:
1325:
1324:
1323:
1318:
1313:
1308:
1298:
1297:
1296:
1291:
1280:
1278:
1274:
1273:
1270:
1269:
1267:
1266:
1260:
1258:
1252:
1251:
1249:
1248:
1243:
1237:
1235:
1229:
1228:
1226:
1225:
1220:
1214:
1212:
1206:
1205:
1203:
1202:
1197:
1192:
1187:
1182:
1177:
1171:
1169:
1163:
1162:
1160:
1159:
1154:
1149:
1144:
1138:
1136:
1127:
1118:
1116:Microfilaments
1112:
1111:
1103:
1102:
1095:
1088:
1080:
1055:
1048:
1047:
1046:
1042:
1041:
1038:
1037:
1025:
1024:
1022:
1018:
1017:
1014:
1013:
1002:
991:
980:
967:
962:
961:
959:
958:Classification
952:
951:
937:
936:External links
934:
933:
932:
905:
890:
856:(4): 723–729.
843:
840:
838:
837:
772:
747:
690:
662:
653:
616:(3): 108–112.
596:
589:
567:
552:
520:
475:
440:
433:
401:
399:
396:
395:
394:
387:
384:
372:
369:
368:
367:
357:
355:Melorheostosis
347:
344:
343:
342:
339:
334:
327:, as well as:
304:
301:
300:
299:
296:
290:SMADs proteins
286:
280:
273:
266:
239:
236:
235:
234:
233:
232:
231:
230:
229:
228:
227:
226:
225:
224:
223:
222:
221:
220:
214:
208:
205:
165:
162:
100:
99:
96:
92:
91:
82:
76:
75:
72:
68:
67:
61:
55:
54:
46:
45:
37:
36:
31:
27:
26:
18:
15:
9:
6:
4:
3:
2:
2854:
2843:
2840:
2838:
2835:
2833:
2830:
2828:
2825:
2823:
2820:
2819:
2817:
2802:
2794:
2792:
2788:
2784:
2782:
2774:
2772:
2764:
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2754:
2753:
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2744:
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2737:
2734:
2733:
2732:
2729:
2727:
2724:
2722:
2719:
2717:
2714:
2712:
2709:
2707:
2706:Public health
2704:
2702:
2699:
2697:
2694:
2692:
2689:
2687:
2686:Allied health
2684:
2682:
2679:
2678:
2676:
2672:
2664:
2661:
2660:
2659:
2656:
2654:
2651:
2649:
2646:
2644:
2641:
2639:
2636:
2634:
2631:
2629:
2626:
2624:
2621:
2620:
2618:
2616:
2610:
2598:
2595:
2594:
2593:
2590:
2588:
2585:
2583:
2580:
2578:
2575:
2571:
2568:
2567:
2566:
2563:
2561:
2558:
2556:
2553:
2549:
2546:
2545:
2544:
2541:
2539:
2536:
2534:
2531:
2528:
2525:
2523:
2520:
2516:
2513:
2512:
2511:
2508:
2506:
2503:
2501:
2498:
2496:
2495:Oral medicine
2493:
2491:
2490:Ophthalmology
2488:
2486:
2483:
2479:
2476:
2475:
2474:
2471:
2469:
2466:
2464:
2461:
2459:
2456:
2454:
2451:
2449:
2445:
2442:
2440:
2437:
2433:
2430:
2429:
2428:
2425:
2423:
2420:
2418:
2415:
2413:
2410:
2408:
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2401:
2398:
2396:
2393:
2392:
2391:
2388:
2386:
2383:
2381:
2378:
2377:
2375:
2371:
2363:
2360:
2358:
2355:
2353:
2352:Cytopathology
2350:
2348:
2345:
2343:
2340:
2338:
2335:
2334:
2333:
2330:
2326:
2323:
2321:
2318:
2316:
2313:
2312:
2311:
2308:
2307:
2305:
2303:
2299:
2293:
2292:Urogynecology
2290:
2288:
2285:
2283:
2280:
2278:
2275:
2273:
2270:
2268:
2265:
2264:
2262:
2260:
2254:
2248:
2245:
2243:
2240:
2238:
2235:
2233:
2230:
2228:
2225:
2223:
2220:
2218:
2215:
2213:
2210:
2206:
2203:
2202:
2201:
2198:
2196:
2195:Endocrinology
2193:
2191:
2188:
2186:
2183:
2181:
2177:
2174:
2173:
2171:
2169:
2163:
2157:
2154:
2150:
2147:
2146:
2145:
2142:
2140:
2137:
2135:
2132:
2130:
2127:
2125:
2122:
2120:
2117:
2115:
2112:
2105:
2104:
2103:
2100:
2098:
2095:
2093:
2090:
2088:
2085:
2083:
2080:
2076:
2073:
2071:
2068:
2067:
2066:
2063:
2061:
2058:
2056:
2053:
2051:
2048:
2046:
2043:
2042:
2040:
2038:
2034:
2031:
2029:
2023:
2019:
2015:
2008:
2003:
2001:
1996:
1994:
1989:
1988:
1985:
1975:
1974:
1967:
1960:
1956:
1955:
1950:
1947:
1946:
1943:
1940:
1938:
1934:
1931:
1930:
1927:
1924:
1922:
1918:
1915:
1914:
1911:
1908:
1906:
1903:
1901:
1897:
1894:
1893:
1891:
1887:
1880:
1876:
1875:
1871:
1868:
1864:
1863:
1859:
1855:
1852:
1850:
1847:
1846:
1845:
1844:
1840:
1839:
1837:
1835:
1831:
1825:
1822:
1821:
1820:
1819:
1815:
1809:
1806:
1804:
1801:
1799:
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1787:
1783:
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1707:
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1698:
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1683:
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1678:
1677:
1675:
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1668:
1666:
1663:
1662:
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1656:
1653:
1652:
1650:
1646:
1643:
1641:
1638:
1636:
1633:
1631:
1628:
1625:
1623:
1620:
1619:
1617:
1614:
1613:
1611:
1607:
1601:
1598:
1596:
1593:
1591:
1587:
1586:Neurofilament
1584:
1583:
1581:
1577:
1571:
1567:
1564:
1563:
1560:
1556:
1553:
1552:
1549:
1546:
1544:
1540:
1537:
1536:
1534:
1530:
1524:
1521:
1519:
1516:
1513:
1509:
1505:
1501:
1498:
1495:
1491:
1488:
1485:
1481:
1478:
1475:
1471:
1468:
1465:
1461:
1458:
1455:
1451:
1448:
1445:
1441:
1438:
1435:
1431:
1428:
1425:
1421:
1418:
1415:
1411:
1408:
1405:
1401:
1398:
1395:
1391:
1388:
1384:
1381:
1379:
1376:
1374:
1371:
1370:
1369:
1365:
1361:
1357:
1353:
1352:Keratinopathy
1350:
1349:
1347:
1343:
1340:
1338:
1334:
1322:
1319:
1317:
1314:
1312:
1309:
1307:
1306:FG syndrome 2
1304:
1303:
1302:
1299:
1295:
1292:
1290:
1287:
1286:
1285:
1282:
1281:
1279:
1275:
1265:
1262:
1261:
1259:
1257:
1253:
1247:
1244:
1242:
1239:
1238:
1236:
1234:
1230:
1224:
1221:
1219:
1216:
1215:
1213:
1211:
1207:
1201:
1198:
1196:
1193:
1191:
1188:
1186:
1183:
1181:
1178:
1176:
1173:
1172:
1170:
1168:
1164:
1158:
1155:
1153:
1150:
1148:
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1143:
1140:
1139:
1137:
1135:
1131:
1128:
1126:
1122:
1119:
1117:
1113:
1108:
1101:
1096:
1094:
1089:
1087:
1082:
1081:
1078:
1070:
1069:
1068:
1062:
1058:
1036:
1032:
1031:
1027:
1026:
1023:
1019:
1012:
1008:
1007:
1003:
1001:
997:
996:
992:
990:
986:
985:
981:
978:
977:
973:
969:
968:
965:
960:
956:
949:
944:
940:
939:
929:
923:
908:
906:9783131161215
902:
898:
897:
891:
887:
883:
879:
875:
871:
867:
863:
859:
855:
851:
846:
845:
834:
827:
823:
818:
813:
809:
805:
800:
795:
791:
787:
783:
776:
762:
758:
751:
743:
739:
734:
729:
725:
721:
717:
713:
709:
705:
701:
694:
680:
676:
669:
667:
657:
649:
645:
640:
635:
631:
627:
623:
619:
615:
611:
607:
600:
592:
586:
582:
578:
571:
565:
561:
556:
542:
541:
533:
531:
529:
527:
525:
516:
510:
495:
494:www.orpha.net
491:
484:
482:
480:
463:
459:
455:
449:
447:
445:
436:
430:
426:
422:
415:
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411:
409:
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402:
393:
390:
389:
383:
380:
378:
365:
361:
358:
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353:
352:
351:
340:
338:
335:
333:
330:
329:
328:
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317:
309:
297:
295:
291:
287:
285:
281:
278:
274:
271:
267:
264:
260:
256:
255:
250:
246:
243:
218:
215:
212:
209:
206:
204:
201:
200:
199:
198:
197:
196:
195:
194:
193:
192:
191:
190:
189:
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187:
186:
185:
183:
179:
170:
161:
159:
155:
150:
148:
144:
140:
136:
132:
129:
124:
122:
118:
114:
110:
106:
97:
93:
90:
86:
83:
81:
77:
73:
69:
65:
62:
60:
56:
52:
47:
43:
38:
35:
32:
28:
23:
2711:Rural health
2696:Nanomedicine
2247:Rheumatology
2178: /
2097:Hand surgery
2082:Neurosurgery
1970:
1952:
1872:
1860:
1841:
1812:
1701:Microtubules
1664:
1107:Cytoskeletal
1065:
1064:
1063:profile for
1060:
1028:
1004:
993:
982:
970:
910:. Retrieved
895:
853:
849:
789:
785:
775:
764:. Retrieved
760:
757:"LEMD3 gene"
750:
707:
703:
693:
682:. Retrieved
678:
656:
613:
609:
599:
580:
570:
555:
545:, retrieved
539:
497:. Retrieved
493:
466:. Retrieved
462:the original
457:
424:
381:
374:
349:
322:
244:
241:
238:Pathogenesis
182:hearing loss
175:
151:
143:neurofibroma
125:
111:) is a rare
108:
104:
103:
33:
2781:Wikiproject
2570:Venereology
2515:Neonatology
2412:Dermatology
2267:Gynaecology
2259:gynaecology
2242:Pulmonology
2060:Eye surgery
2022:Specialties
1933:plakophilin
1896:desmoplakin
1862:plakoglobin
1616:Laminopathy
1512:Monilethrix
1360:keratoderma
1233:Tropomyosin
1125:Myofilament
786:Scientifica
543:, eMedicine
499:29 December
468:29 December
219:abnormality
51:inheritance
30:Other names
2816:Categories
2543:Psychiatry
2529:(PM&R)
2522:Phlebology
2510:Pediatrics
2337:Anatomical
2302:Diagnostic
2282:Obstetrics
2232:Nephrology
2217:Hematology
2212:Geriatrics
2205:Hepatology
2190:Cardiology
2180:Immunology
1949:centrosome
1566:Peripherin
1006:DiseasesDB
912:3 February
766:2018-05-13
684:2018-05-13
547:2009-09-05
398:References
364:metastases
337:Ultrasound
284:bone cells
252:Bone cells
217:Metaphysis
89:ultrasound
2827:Syndromes
2731:Physician
2615:education
2473:Neurology
2468:Narcology
2332:Pathology
2310:Radiology
2185:Angiology
2149:Andrology
1767:Tauopathy
1356:keratosis
1284:Fibrillin
922:cite book
870:1365-2133
808:2090-908X
724:1558-8238
630:2352-6475
371:Treatment
360:Sclerotic
303:Diagnosis
207:Bone pain
128:autosomal
95:Treatment
2761:Category
2237:Oncology
2168:medicine
2166:Internal
2014:Medicine
1794:Spectrin
1786:Membrane
1627:Dunnigan
1210:Troponin
1030:Orphanet
886:24066368
878:26708699
826:24278718
792:: 1–15.
742:19587457
648:28492020
562:(OMIM):
509:cite web
386:See also
131:dominant
59:Symptoms
2801:Outline
2771:Commons
2716:Therapy
2613:Medical
2176:Allergy
2144:Urology
2037:Surgery
1917:plectin
1834:Catenin
1814:Ankyrin
1710:Kinesin
1618:: LMNA
1301:Filamin
1109:defects
1057:Scholia
1000:C537415
979:: Q78.8
835:license
817:3820553
733:2701866
639:5418872
279:pathway
121:papules
66:in skin
64:Papules
2791:Portal
2658:MD–PhD
1733:Dynein
1661:LEMD3
1539:Desmin
1167:Myosin
1152:DFNA20
1059:has a
989:166700
903:
884:
876:
868:
824:
814:
806:
740:
730:
722:
646:
636:
628:
587:
564:166700
431:
147:lipoma
145:, and
71:Causes
2373:Other
1889:Other
1760:Other
1651:LMNB
1508:KRT86
1504:KRT83
1500:KRT81
1490:KRT18
1480:KRT17
1470:KRT14
1460:KRT13
1450:KRT12
1440:KRT10
1390:KRT2E
1277:Other
1256:Titin
1134:Actin
1061:topic
1011:30071
882:S2CID
362:bone
332:X-ray
117:LEMD3
85:X-ray
1954:PCNT
1676:LBR
1555:GFAP
1430:KRT8
1420:KRT5
1410:KRT4
1400:KRT3
1383:IHCM
1368:KRT1
1035:1306
995:MeSH
984:OMIM
928:link
914:2018
901:ISBN
874:PMID
866:ISSN
822:PMID
804:ISSN
790:2012
738:PMID
720:ISSN
644:PMID
626:ISSN
585:ISBN
515:link
501:2017
470:2017
429:ISBN
259:MAN1
213:nevi
180:and
156:and
2107:ENT
2025:and
1874:GAN
1843:APC
1366:):
1345:1/2
972:ICD
858:doi
854:174
812:PMC
794:doi
728:PMC
712:doi
708:119
634:PMC
618:doi
294:DNA
184:):
109:BOS
2818::
2446:/
1951::
1935::
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1588::
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Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.