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Article

Identification of I411K, a novel missense EYA4 mutation causing autosomal dominant non‑syndromic hearing loss.

International journal of molecular medicine - 1 Dec 2014

Tan Minxing, Shen Xiaofei, Yao Jun, Wei Qinjun, Lu Yajie, Cao Xin, Xing Guangqian

Abstract excerpt

Hearing loss is the most common sensory deficit in humans and gaining a better understanding of the underlying causes is necessary to improve counseling and rehabilitation. In the present study, a genetic analysis of a Chinese family with autosomal dominant non‑syndromic progressive hearing impairment was conducted and assessed. Whole‑exome sequencing in combination with a co‑segregation analysis identified a...

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Source

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Identifiers

PMID: 25242383
DOI: 10.3892/ijmm.2014.1939
PMCID: PMC4214331

Genes

EYA4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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