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A novel missense variant in MYO3A is associated with autosomal dominant high‐frequency hearing loss in a German family
BACKGROUND: MYO3A, encoding the myosin IIIA protein, is associated with autosomal recessive and autosomal dominant nonsyndromic hearing loss. To date, only two missense variants located in the motor‐head domain of MYO3A have been described in autosomal dominant families with progressive, mild‐to‐pro...
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| Izdano u: | Mol Genet Genomic Med |
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| Glavni autori: | , , , , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
John Wiley and Sons Inc.
2020
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7434730/ https://ncbi.nlm.nih.gov/pubmed/32519820 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1343 |
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