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

• Príomhchruthaitheoirí: Junfang Xue (Údar), Linyi Xie (Údar), Qiuchen Zheng (Údar), Fen Xiong (Údar), Xiedong Wu (Údar), Jialin Fan (Údar), Yang Zhang (Údar), Dayong Wang (Údar), Qiujing Zhang (Údar), Qiuju Wang (Údar)
• Formáid: LEABHAR
• Foilsithe / Cruthaithe: BMC, 2024-10-01T00:00:00Z.
• Ábhair: article
• Rochtain ar líne: Connect to this object online.

Abstract 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 testi...