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Article

Clinical and molecular analysis of three Mexican families with Pendred's syndrome.

European journal of endocrinology - 1 Jun 2001

Gonzalez Trevino O, Karamanoglu Arseven O, Ceballos C J, Vives V I, Ramirez R C, Gomez V V, Medeiros-Neto G, Kopp P

Abstract excerpt

BACKGROUND: The autosomal recessive Pendred's syndrome is defined by congenital sensorineural deafness, goiter, and impaired iodide organification. It is caused by mutations in the Pendred's syndrome (PDS) gene that encodes pendrin, a chloride/iodide transporter expressed in the thyroid, the inne...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11375792
DOI: 10.1530/eje.0.1440585

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11375792-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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