Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10

Hearing loss is the most common sensory deficit in humans. Identifying the genetic cause and genotype-phenotype correlation of hearing loss is sometimes challenging due to extensive clinical and genetic heterogeneity. In this study, we applied targeted next-generation sequencing (NGS) to resolve the...

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Detalles Bibliográficos
Autores principales: Yu, Xiaoyu, Lin, Yun, Wu, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474784/
https://www.ncbi.nlm.nih.gov/pubmed/32908489
http://dx.doi.org/10.1155/2020/8860837

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7474784/
https://www.ncbi.nlm.nih.gov/pubmed/32908489
http://dx.doi.org/10.1155/2020/8860837

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