Article
Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.
BioMed research international - 1 Jan 2020
Huang Shasha, Gao Xue, Wang Yufeng, Kang Dongyang, Zhang Xin, Yang Suyan, Dai Pu
Abstract excerpt
BACKGROUND: GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. METHODS: In this study, we examined four generations of a Chinese family (M127) with hearing...
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