Article
ELMOD3, a novel causative gene, associated with human autosomal dominant nonsyndromic and progressive hearing loss.
Human genetics - 1 Apr 2018
Li Wu, Sun Jie, Ling Jie, Li Jiada, He Chufeng, Liu Yalan, Chen Hongsheng, Men Meichao, Niu Zhijie, Deng Yuyuan, Li Meng, Li Taoxi, Wen Jie, Sang Shushan, Li Haibo, Wan Zhengqing, Richard Elodie M, Chapagain Prem, Yan Denise, Liu Xue Zhong, Mei Lingyun, Feng Yong
Abstract excerpt
Autosomal dominant nonsyndromic hearing loss (ADNSHL) is a highly genetically heterogeneous disorder. Up to date only approximately 37 ADNSHL-causing genes have been identified. The goal of this study was to determine the causative gene in a five-generation Chinese family with ADNSHL. A Chinese family was ascertained. Simultaneously, two affected individuals and one normal hearing control from the family were...
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