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A Mutation in CCDC50, a Gene Encoding an Effector of Epidermal Growth Factor–Mediated Cell Signaling, Causes Progressive Hearing Loss
We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family. CCDC50 encodes Ymer, an effector of epiderma...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The American Society of Human Genetics
2007
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1867096/ https://ncbi.nlm.nih.gov/pubmed/17503326 |
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