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Article

Genetics and phenomics of Pendred syndrome.

Molecular and cellular endocrinology - 30 Jun 2010

Bizhanova Aigerim, Kopp Peter

Abstract excerpt

Pendred syndrome is an autosomal recessive disorder characterized by sensorineural deafness, goiter and a partial defect in iodide organification. Goiter development and hypothyroidism vary and appear to depend on nutritional iodide intake. Pendred syndrome is caused by biallelic mutations in the SLC26A4 gene, which encodes pendrin, a multifunctional anion exchanger. Pendrin is mainly expressed in the thyroid,...

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Source

Identifiers

PMID: 20298745
DOI: 10.1016/j.mce.2010.03.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Pendred syndrome.Semantic proximity Read ↗

Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.Semantic proximity Read ↗

Mutations of the PDS Gene, Encoding Pendrin, Are Associated with Protein Mislocalization and Loss of Iodide Efflux: Implications for Thyroid Dysfunction in Pendred SyndromeSemantic proximity Read ↗

[Pendrin: physiology, molecular biology and clinical importance].Semantic proximity Read ↗

SLC26A4 mutation in Pendred syndrome with hypokalemia: A case report.Semantic proximity Read ↗

Hereditary hearing loss with thyroid abnormalities.Semantic proximity Read ↗

Pendred's Syndrome: Identification of the Genetic Defect a Century After Its RecognitionSemantic proximity Read ↗

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