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Article

Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.

The Laryngoscope - 1 May 2014

Song Mee Hyun, Shin Joong-Wook, Park Hong-Joon, Lee Kyung-A, Kim Yoonjung, Kim Un-Kyung, Jeon Ju Hyun, Choi Jae Young

Abstract excerpt

OBJECTIVES/HYPOTHESIS: Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or environmental factors...

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Source

Identifiers

PMID: 24338212
DOI: 10.1002/lary.24504

Genes

FOXI1
KCNJ10

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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