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Article

Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.

Journal of human genetics - 1 Jan 2006

Iwasaki Satoshi, Tsukamoto Koji, Usami Shinichi, Misawa Kiyoshi, Mizuta Kunihiro, Mineta Hiroyuki

Abstract excerpt

Pendred syndrome and non-syndromic recessive deafness associated with enlarged vestibular aqueduct (NSRD with EVA) are caused by mutations in the SLC26A4 (PDS) gene. Unlike NSRD with EVA, Pendred syndrome is characterized by goiter, which may be present after early adulthood. However, the clinical diagnosis of these two disorders is difficult in deaf children. Expression of the SLC26A4 gene may be responsible for...

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PMID: 16924389
DOI: 10.1007/s10038-006-0027-z

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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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Association of SLC26A4 mutations with clinical features and thyroid function in deaf infants with enlarged vestibular aqueduct.PMID 16924389Read ↗

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Molecular epidemiology and functional assessment of novel allelic variants of SLC26A4 in non-syndromic hearing loss patients with enlarged vestibular aqueduct in China.Semantic proximity Read ↗

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