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9. Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR. Nat Genet; 2004 Nov; 36(11):1213-8. PubMed ID: 15489854 [Abstract] [Full Text] [Related]
13. The Buschke-Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand. Brodbeck M, Yousif Q, Diener PA, Zweier M, Gruenert J. BMC Res Notes; 2016 Jun 07; 9():294. PubMed ID: 27267960 [Abstract] [Full Text] [Related]
14. Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis. Hellemans J, Debeer P, Wright M, Janecke A, Kjaer KW, Verdonk PC, Savarirayan R, Basel L, Moss C, Roth J, David A, De Paepe A, Coucke P, Mortier GR. Hum Mutat; 2006 Mar 07; 27(3):290. PubMed ID: 16470551 [Abstract] [Full Text] [Related]
19. Buschke-Ollendorff syndrome in a 6-year-old patient: clinical and histopathological aspects of a rare disease. Diotallevi F, Simonetti O, Radi G, Martina E, Paolinelli M, Sapigni C, Guanciarossa F, Bianchelli T, Brancorsini D, Offidani A. Acta Dermatovenerol Alp Pannonica Adriat; 2020 Mar 07; 29(1):31-33. PubMed ID: 32206820 [Abstract] [Full Text] [Related]