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Identification of novel variants in MYO15A, OTOF, and RDX with hearing loss by next‐generation sequencing

BACKGROUND: Nonsyndromic hearing loss (NSHL) is the most common sensorineural disorder and one of the most common human defects. Autosomal recessive inheritance accounts for a huge percentage of familial cases. Next‐generation sequencing (NGS) is a powerful molecular diagnostic strategy for NSHL. Th...

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Detalles Bibliográficos
Autores principales: Bai, Xuejing, Nian, Shiyan, Feng, Lei, Ruan, Qingrong, Luo, Xuan, Wu, Mengna, Yan, Zefeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6687625/
https://www.ncbi.nlm.nih.gov/pubmed/31250571
http://dx.doi.org/10.1002/mgg3.808