Article
Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants.
BMC medical genomics - 3 Oct 2024
Xue Junfang, Xie Linyi, Zheng Qiuchen, Xiong Fen, Wu Xiedong, Fan Jialin, Zhang Yang, Wang Dayong, Zhang Qiujing, Wang Qiuju
Abstract excerpt
BACKGROUND: EYA4 variants are responsible for DFNA10 deafness. Due to its insidious onset and slow progression, hearing loss in autosomal dominant non-syndromic hearing loss (ADNSHL) is usually challenging to detect early in clinical settings, with limited intervention options. Genetic testing can aid in early detection of hearing loss, enabling timely intervention to reduce disability rates and improve the...
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