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Article

[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].

Laryngo- rhino- otologie - 1 Dec 2004

Birkenhäger R, Knapp F B, Klenzner T, Aschendorff A, Schipper J

Abstract excerpt

BACKGROUND: Pendred-syndrome is an autosomal recessive disease that is classically characterised by sensorineural hearing loss and enlargement of the thyroid gland. The gene SLC26A4/PDS for the pendred-syndrome has been localised by linkage analysis on chromosome 7q31. This protein is expressed in the inner ear, thyroid gland, kidney and placenta. Functional analysis in Xenopus laevis oocytes revealed that it...

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Identifiers

PMID: 15611902
DOI: 10.1055/s-2004-826001

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome].PMID 15611902Read ↗

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