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A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)
We report a missense mutation in the connexin 26 gene (GJB2) in a family with an autosomal dominant syndrome of hearing loss and hyperkeratosis. The affected family members have high frequency, slowly progressive, bilateral, sensorineural hearing loss and palmoplantar hyperkeratosis. The mutation ca...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2000
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734451/ https://ncbi.nlm.nih.gov/pubmed/10633135 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.1.50 |
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