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Article

Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.

Journal of human genetics - 1 May 2014

Miyagawa Maiko, Nishio Shin-Ya, Usami Shin-Ichi

Abstract excerpt

Mutations in SLC26A4 cause a broad phenotypic spectrum, from typical Pendred syndrome to nonsyndromic hearing loss associated with enlarged vestibular aqueduct. Identification of these mutations is important for accurate diagnosis, proper medical management and appropriate genetic counseling and requires updated information regarding spectrum, clinical characteristics and genotype-phenotype correlations, based on...

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Identifiers

PMID: 24599119
DOI: 10.1038/jhg.2014.12
PMCID: PMC4521295

Genes

GJB2

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