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; Nature Genetics, 2004, vol. 36, issue 11, p 1213, ISSN 10614036. ISBN 10614036.

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