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Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment
Pathogenic variant in COCH are a known cause of DFNA9 autosomal dominant progressive hearing loss and vestibular dysfunction with adult onset. Hitherto, only dominant nonsynonymous variants and in-frame deletions with a presumed dominant negative or gain-of-function effect have been described. Here,...
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| Publicado no: | Eur J Hum Genet |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer International Publishing
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5891501/ https://ncbi.nlm.nih.gov/pubmed/29449721 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0066-2 |
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