Article
Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach.
Scientific reports - 17 Feb 2021
Wang Jing, Xiang Jiale, Chen Lisha, Luo Hongyu, Xu Xiuhua, Li Nan, Cui Chunming, Xu Jingjing, Song Nana, Peng Jiguang, Peng Zhiyu
Abstract excerpt
Hearing loss is one of the most common birth disorders in humans, with an estimated prevalence of 1-3 in every 1000 newborns. This study investigates the molecular etiology of a hearing loss cohort using a stepwise strategy to effectively diagnose patients and address the challenges posed by the genetic heterogeneity and variable mutation spectrum of hearing loss. In order to target known pathogenic variants,...
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