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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...
שמור ב:
| הוצא לאור ב: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , , |
| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
John Wiley and Sons Inc.
2020
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| נושאים: | |
| גישה מקוונת: | 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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