Case Report: Exome Sequencing Identified Variants in Three Candidate Genes From Two Families With Hearing Loss, Onychodystrophy, and Epilepsy

A cohort of 542 individuals in 166 families with congenital hearing loss was recruited for whole-exome sequencing analysis. Here, we report the identification of three variants in five affected individuals in two unrelated families. In family 1, a nonsense mutation (c.1516C>T, p.R506*) in the ATP...

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Detalles Bibliográficos
Autores principales: Li, Yuan, Xiong, Jianjun, Zhang, Yi, Xu, Lin, Liu, Jianyun, Cai, Tao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667665/
https://www.ncbi.nlm.nih.gov/pubmed/34912366
http://dx.doi.org/10.3389/fgene.2021.728020

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667665/
https://www.ncbi.nlm.nih.gov/pubmed/34912366
http://dx.doi.org/10.3389/fgene.2021.728020

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