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Comprehensive genetic testing improves the clinical diagnosis and medical management of pediatric patients with isolated hearing loss.

BMC medical genomics - 27 Jun 2022

Xiang Jiale, Jin Yuan, Song Nana, Chen Sen, Shen Jiankun, Xie Wen, Sun Xiangzhong, Peng Zhiyu, Sun Yu

Abstract excerpt

PURPOSE: Genetic testing is widely used in diagnosing genetic hearing loss in patients. Other than providing genetic etiology, the benefits of genetic testing in pediatric patients with hearing loss are less investigated. METHODS: From 2018-2020, pediatric patients who initially presented isolated hearing loss were enrolled. Comprehensive genetic testing, including GJB2/SLC26A4 multiplex amplicon sequencing,...

Topics

Child
Connexin 26
Connexins
DNA Copy Number Variations
Deafness
Genetic Testing
Hearing Loss
Humans
Intercellular Signaling Peptides and Proteins
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35761346
DOI: 10.1186/s12920-022-01293-x
PMCID: PMC9235092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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