Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Jan Hellemans(Ghent University Hospital), Olena Preobrazhenska(KU Leuven), Andy Willaert(Ghent University Hospital), Philippe Debeer(KU Leuven), Peter Verdonk(Ghent University Hospital), Teresa Costa(Université de Montréal), Katrien Janssens(University of Antwerp), Björn Menten(Ghent University Hospital), Nadine Van Roy(Ghent University Hospital), Stefan Vermeulen(Ghent University Hospital), Ravi Savarirayan(Victorian Clinical Genetics Services), Wim Van Hul(University of Antwerp), Filip Vanhoenacker(University of Antwerp), Danny Huylebroeck(Vlaams Instituut voor Biotechnologie), Anne De Paepe(Ghent University Hospital), J.M. Naeyaert(Ghent University Hospital), Jo Vandesompele(Ghent University Hospital), Frank Speleman(Ghent University Hospital), Kristin Verschueren(KU Leuven), Paul Coucke(Ghent University Hospital), Geert Mortier(Ghent University Hospital)
Nature Genetics
October 17, 2004
10.1038/ng1453
Cited by 461Open Access
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