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Autosomal dominant non-syndromic hearing loss caused by a novel mutation in MYO7A: A case report and review of the literature

BACKGROUND: Variants in the MYO7A gene commonly result in Usher syndrome, and in rare cases lead to autosomal dominant non-syndromic deafness (DFNA11). Currently, only nine variants have been reported to be responsible for DFNA11 and their clinical phenotypes are not identical. Here we present a nov...

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Detalles Bibliográficos
Autores principales: Xia, Cai-Feng, Yan, Rong, Su, Wen-Wen, Liu, Yu-He
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10506018/
https://www.ncbi.nlm.nih.gov/pubmed/37727480
http://dx.doi.org/10.12998/wjcc.v11.i25.5962