Article
Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation.
Neural plasticity - 1 Jan 2020
Guo Chang, Huang Sha-Sha, Yuan Yong-Yi, Zhou Ying, Wang Ning, Kang Dong-Yang, Yang Su-Yan, Zhang Xin, Gao Xue, Dai Pu
Abstract excerpt
Hereditary hearing loss is characterized by remarkable phenotypic heterogeneity. Patients with the same pathogenic mutations may exhibit various hearing loss phenotypes. In the Chinese population, the c.235delC mutation is the most common pathogenic mutation of GJB2 and is closely related to hereditary recessive hearing loss. Here, we investigated the hearing phenotypes of patients with hearing loss associated...
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