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Article

Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.

American journal of medical genetics. Part A - 1 Sept 2013

Chai Yongchuan, Huang Zhiwu, Tao Zheng, Li Xiaohua, Li Lei, Li Yun, Wu Hao, Yang Tao

Abstract excerpt

Recessive mutations in SLC26A4 and in rarer cases double heterozygous mutations of FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with enlarged vestibular aqueduct (EVA), the most common inner ear malformation. In our large cohort study, we addressed several important questions to the molecular etiology of this disorder. The overall prevalence of SLC26A4 mutations in nonsyndromic childhood...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Potassium Channels, Inwardly Rectifying

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Source

Identifiers

PMID: 23918157
DOI: 10.1002/ajmg.a.36068

Genes

FOXI1
KCNJ10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.PMID 23918157Read ↗

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