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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2015
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| 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 |