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Novel and recurrent germline LEMD3 mutations causing Buschke-Ollendorff syndrome and osteopoikilosis but not isolated melorheostosis.

Abstract:

Mutations in the LEMD3 gene were recently incriminated in Buschke-Ollendorff syndrome (BOS) and osteopoikilosis, with or without melorheostosis. The relationship of this gene with isolated sporadic melorheostosis is less clear. We investigated LEMD3 in a two-generation BOS family showing an extremely variable expression of the disease, in a sporadic patient with skin features of BOS, and in an additional subject with isolated melorheostosis. We identified two different mutations, both resulti...

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Publication status:
Published

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Authors


Castori, M More by this author
Ferranti, G More by this author
Paradisi, M More by this author
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, NDORMS
Journal:
Clinical genetics
Volume:
75
Issue:
6
Pages:
556-561
Publication date:
2009-06-05
DOI:
EISSN:
1399-0004
ISSN:
0009-9163
URN:
uuid:93c9abe7-7f06-490a-b244-0777bf96b726
Source identifiers:
108410
Local pid:
pubs:108410

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