Article
Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
Journal of medical genetics - 1 May 2018
Gao Xue, Yuan Yong-Yi, Lin Qiong-Fen, Xu Jin-Cao, Wang Wei-Qian, Qiao Yue-Hua, Kang Dong-Yang, Bai Dan, Xin Feng, Huang Sha-Sha, Qiu Shi-Wei, Guan Li-Ping, Su Yu, Wang Guo-Jian, Han Ming-Yu, Jiang Yi, Liu Han-Kui, Dai Pu
Abstract excerpt
Background Hereditary sensorineural hearing loss is a genetically heterogeneous disorder. Objectives This study was designed to explore the genetic etiology of deafness in a large Chinese family with autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL). Methods Whole exome sequencing and linkage analysis were performed to identify pathogenic mutation. Inner ear expression of Ifnlr1...
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