A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss

A frameshift mutation of TMPRSS3 in a Chinese family with non-syndromic hearing loss

BackgroundDeafness is the most common sensory defect in humans worldwide. Approximately 50% of cases are attributed to genetic factors, and about 70% are non-syndromic hearing loss (NSHL).ObjectivesTo identify clinically relevant gene variants associated with NSHL in a Chinese family using trio-base...

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Bibliographic Details
Main Authors: Jingwen Liang, Zhuoheng Yu, Zhangxing Wang, Jianxia Chen, Yihuan Liu, Zhaoqing Yin, Ruihuan Xu
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-12-01
Series:Frontiers in Pediatrics
Subjects:
TMPRSS3
homozygous
non-syndromic hearing loss
whole-exome sequencing
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2022.1032659/full

Internet

https://www.frontiersin.org/articles/10.3389/fped.2022.1032659/full

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