Proband Whole-Exome Sequencing Identified Genes Responsible for Autosomal Recessive Non-Syndromic Hearing Loss in 33 Chinese Nuclear Families

Autosomal recessive non-syndromic hearing loss (ARNSHL) is a highly heterogeneous disease involving more than 70 pathogenic genes. However, most ARNSHL families have small-sized pedigrees with limited genetic information, rendering challenges for the molecular diagnosis of these patients. Therefore,...

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Detalles Bibliográficos
Autores principales: Sang, Shushan, Ling, Jie, Liu, Xuezhong, Mei, Lingyun, Cai, Xinzhang, Li, Taoxi, Li, Wu, Li, Meng, Wen, Jie, Liu, Xianlin, Liu, Jing, Liu, Yalan, Chen, Hongsheng, He, Chufeng, Feng, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650584/
https://www.ncbi.nlm.nih.gov/pubmed/31379920
http://dx.doi.org/10.3389/fgene.2019.00639

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6650584/
https://www.ncbi.nlm.nih.gov/pubmed/31379920
http://dx.doi.org/10.3389/fgene.2019.00639

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