Article
Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.
Nature genetics - 1 Nov 2004
Hellemans Jan, Preobrazhenska Olena, Willaert Andy, Debeer Philippe, Verdonk Peter C M, Costa Teresa, Janssens Katrien, Menten Bjorn, Van Roy Nadine, Vermeulen Stefan J T, Savarirayan Ravi, Van Hul Wim, Vanhoenacker Filip, Huylebroeck Danny, De Paepe Anne, Naeyaert Jean-Marie, Vandesompele Jo, Speleman Frank, Verschueren Kristin, Coucke Paul J, Mortier Geert R
Abstract excerpt
Osteopoikilosis, Buschke-Ollendorff syndrome (BOS) and melorheostosis are disorders characterized by increased bone density. The occurrence of one or more of these phenotypes in the same individual or family suggests that these entities might be allelic. We collected data from three families in which affected individuals had osteopoikilosis with or without manifestations of BOS or melorheostosis. A genome-wide...
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