Case Report: Novel Heterozygous DFNA5 Splicing Variant Responsible for Autosomal Dominant Non-syndromic Hearing Loss in a Chinese Family

Autosomal dominant non-syndromic hearing loss (ADNSHL) has a broad phenotypic spectrum which includes bilateral, symmetrical, and high-frequency sensorineural hearing loss, that eventually progresses into hearing loss at all frequencies. Several genetic variations have been identified as causal fact...

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Bibliographic Details
Main Authors: Xi Chen, Bao-Long Jia, Mei-Hui Li, Yuan Lyu, Cai-Xia Liu
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-08-01
Series:Frontiers in Genetics
Subjects:
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.569284/full