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Article

Identification of a founder mutation for Pendred syndrome in families from northwest Iran.

International journal of pediatric otorhinolaryngology - 1 Nov 2014

Mohseni Marzieh, Honarpour Asal, Mozafari Reza, Davarnia Behzad, Najmabadi Hossein, Kahrizi Kimia

Abstract excerpt

OBJECTIVE: Mutations in the SLC26A4 gene cause both Pendred syndrome and autosomal recessive nonsyndromic hearing loss (ARNSHL) at the DFNB4 locus. The SLC26A4 mutations vary among different communities. Previous studies have shown that mutations in the SLC26A4 gene are responsible for the more c...

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Source

Identifiers

PMID: 25239229
DOI: 10.1016/j.ijporl.2014.08.035

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25239229-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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