Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-sy...
Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants
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Author / Creator
Xue, Junfang , Xie, Linyi , Zheng, Qiuchen , Xiong, Fen , Wu, Xiedong , Fan, Jialin , Zhang, Yang , Wang, Dayong , Zhang, Qiujing and Wang, Qiuju
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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Scope and Contents
Contents
EYA4 variants are responsible for DFNA10 deafness. Due to its insidious onset and slow progression, hearing loss in autosomal dominant non-syndromic hearing loss (ADNSHL) is usually challenging to detect early in clinical settings, with limited intervention options. Genetic testing can aid in early detection of hearing loss, enabling timely interve...
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Full title
Identification of a novel EYA4 likely pathogenic variant in a Chinese family with postlingual non-syndromic hearing loss and analysis of molecular epidemiology of EYA4 variants
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_1819332b461a4428bcb90f358303584e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_1819332b461a4428bcb90f358303584e
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-024-02010-6
