Article
A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis.
BioMed research international - 1 Jan 2015
Fayez Alaaeldin, Aglan Mona, Esmaiel Nora, El Zanaty Taher, Abdel Kader Mohamed, El Ruby Mona
Abstract excerpt
Sclerosteosis is a rare autosomal recessive condition characterized by increased bone density. Mutations in SOST gene coding for sclerostin are linked to sclerosteosis. Two Egyptian brothers with sclerosteosis and their apparently normal consanguineous parents were included in this study. Clinical evaluation and genomic sequencing of the SOST gene were performed followed by in silico analysis of the resulting...
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