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A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment
Mutations in CEACAM16 cause autosomal dominant nonsyndromic hearing loss (DFNA4B). So far, 2 families have been reported with segregating missense mutations, both in the immunoglobulin constant domain A of the CEACAM16 protein. In this study, we used the TruSight One panel to investigate a parent-ch...
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| Izdano u: | Mol Syndromol |
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| Glavni autori: | , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
S. Karger AG
2015
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4662267/ https://ncbi.nlm.nih.gov/pubmed/26648831 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000439576 |
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