Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis-Reference-Cited by-同舟云学术

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

Published:2004-10-17 Issue:11 Volume:36 Page:1213-1218
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Hellemans Jan,Preobrazhenska Olena,Willaert Andy,Debeer Philippe,Verdonk Peter C M,Costa Teresa,Janssens Katrien,Menten Bjorn,Roy Nadine Van,Vermeulen Stefan J T,Savarirayan Ravi,Hul Wim Van,Vanhoenacker Filip,Huylebroeck Danny,Paepe Anne De,Naeyaert Jean-Marie,Vandesompele Jo,Speleman Frank,Verschueren Kristin,Coucke Paul J,Mortier Geert R

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng1453.pdf

Reference29 articles.

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3. Butkus, C.E., Michels, V.V., Lindor, N.M. & Cooney, W.P. 3rd Melorheostosis in a patient with familial osteopoikilosis. Am. J. Med. Genet. 72, 43–46 (1997).

4. Nevin, N.C., Thomas, P.S., Davis, R.I. & Cowie, G.H. Melorheostosis in a family with autosomal dominant osteopoikilosis. Am. J. Med. Genet. 82, 409–414 (1999).

5. Osada, S., Ohmori, S.Y. & Taira, M. XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos. Development 130, 1783–1794 (2003).

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