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Article

Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.

Thyroid : official journal of the American Thyroid Association - 1 Apr 2014

Ladsous Miriam, Vlaeminck-Guillem Virginie, Dumur Viviane, Vincent Christophe, Dubrulle Frédérique, Dhaenens Claire-Marie, Wémeau Jean-Louis

Abstract excerpt

BACKGROUND: Pendred syndrome (PS), a recessive disorder caused by mutations in the SLC26A4 (PDS) gene, is associated with deafness and goiter. SLC26A4 mutations have also been identified in patients exhibiting isolated sensorineural hearing loss without apparent thyroid abnormality (nonsyndromic enlargement of the vestibular aqueduct; nonsyndromic EVA). Our aim was to describe systematically the thyroidal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24224479
DOI: 10.1089/thy.2013.0164

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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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