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Article

Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

Annals of human genetics - 1 Jul 2010

Pourová Radka, Janousek Petr, Jurovcík Michal, Dvoráková Marcela, Malíková Marcela, Rasková Dagmar, Bendová Olga, Leonardi Emanuela, Murgia Alessandra, Kabelka Zdenek, Astl Jaromír, Seeman Pavel

Abstract excerpt

Mutations in SLC26A4 cause Pendred syndrome (PS) - hearing loss with goitre - or DFNB4 - non-syndromic hearing loss (NSHL) with inner ear abnormalities such as Enlarged Vestibular Aqueduct (EVA) or Mondini Dysplasia (MD). We tested 303 unrelated Czech patients with early hearing loss (298 with NS...

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Source

Identifiers

PMID: 20597900
DOI: 10.1111/j.1469-1809.2010.00581.x

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20597900-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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