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Article

Phenotype-genotype correlation in 295 Chinese deaf subjects with biallelic causative mutations in the GJB2 gene.

Genetic testing and molecular biomarkers - 1 Sept 2011

Zhao Fei-Fan, Ji Yu-Bin, Wang Da-Yong, Lan Lan, Han Ming-Kun, Li Qian, Zhao Yali, Rao Shaoqi, Han Dongyi, Wang Qiu-Ju

Abstract excerpt

AIMS: The connexin 26 coding gene (GJB2) is the primary causative gene for nonsyndromic sensorineural hearing impairment (NSSHI). More than 100 mutations in this gene have been reported to be linked to hearing impairment (HI), from mild to profound hearing loss. To precisely estimate the impact of GJB2 mutations in the Chinese population, a cross-sectional study was performed to analyze the auditory data of...

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Source

Identifiers

PMID: 21488715
DOI: 10.1089/gtmb.2010.0192

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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