Article
A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis.
Calcified tissue international - 1 Aug 2007
Couto Ana R, Bruges-Armas Jacome, Peach Chris A, Chapman Kay, Brown Matthew A, Wordsworth B Paul, Zhang Yun
Abstract excerpt
Recent studies have reported loss of function mutations in the LEMD3 gene, encoding an inner nuclear membrane protein that influences Smad signaling, as a cause of osteopoikilosis, Buschke-Ollendorff syndrome, and melorheostosis. We investigated LEMD3 in a three-generation family with osteopoikilosis from the Azores, an affected father and daughter from Ireland with osteopoikilosis (the daughter also had...
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