Clinical and genetic architecture of a large cohort with auditory neuropathy

Hongyang Wang,Liping Guan,Xiaonan Wu, Jing Guan,Jin Li, Nan Li, Kaili Wu,Ya Gao,Dan Bing,Jianguo Zhang,Lan Lan, Tao Shi,Danyang Li,Wenjia Wang,Linyi Xie,Fen Xiong,Wei Shi,Lijian Zhao,Dayong Wang,Ye Yin,Qiuju Wang

Human Genetics（2024）

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摘要

Auditory neuropathy (AN) is a unique type of language developmental disorder, with no precise rate of genetic contribution that has been deciphered in a large cohort. In a retrospective cohort of 311 patients with AN, pathogenic and likely pathogenic variants of 23 genes were identified in 98 patients (31.5

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