A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A

A KCNQ4 Gene Variant (c.701A > G; p.His234Arg) in a Chinese Family With Nonsyndromic Deafness 2A

ABSTRACT Background KCNQ4 is a common genetic cause of nonsyndromic autosomal dominant hearing loss. We have identified the family in China with a KCNQ4 (c.701A>G; p.His234Arg) missense variation. In this study, a survey and analysis were performed to investigate the audiological and genetic char...

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Main Authors: Guo‐Qing Gong, Cheng‐Cheng Huang, Hui‐Yu Jin, Zhao Zhang, Chang‐Liang Yang, Guang Yang, Hui‐Fang Lu, Yue‐Bin Yang, Jing‐Yuan Cao, Rui‐Yao Chen, Li‐Wang, Yi‐Ming Ji, Yi Sun, Yu Lu
Format: Article
Language:English
Published: Wiley 2025-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Chinese family
hereditary hearing loss
KCNQ4 gene
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.70075
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https://doi.org/10.1002/mgg3.70075

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