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A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

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 e...

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Detalles Bibliográficos
Autores principales: Fayez, Alaaeldin, Aglan, Mona, Esmaiel, Nora, El Zanaty, Taher, Abdel Kader, Mohamed, El Ruby, Mona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4423033/
https://www.ncbi.nlm.nih.gov/pubmed/25984533
http://dx.doi.org/10.1155/2015/517815