Case report: Novel GJB2 variant c.113T>C associated with autosomal recessive non-syndromic hearing loss (ARNSHL) in a Han family
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
General Medicine
Reference18 articles.
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2. Identification of TMPRSS3 as a significant contributor to autosomal recessive hearing loss in the Chinese population;Gao;Neural Plast,2017
3. Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing;Xing;Genet Med,2015
4. Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population;Xiong;Genet Mol Res,2017
5. A novel dominant GJB2 (DFNA3) mutation in a Chinese family;Wang;Sci Rep,2017
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1. Unusual phenotype in 35delG mutation: a case report;Journal of Medical Case Reports;2024-05-12
2. A systematic review of the monogenic causes of Non‐Syndromic Hearing Loss (NSHL) and discussion of Current Diagnosis and Treatment options;Clinical Genetics;2022-09-29
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