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Article

Identification of PENDRIN (SLC26A4) mutations in patients with congenital hypothyroidism and "apparent" thyroid dysgenesis.

The Journal of clinical endocrinology and metabolism - 1 Jan 2014

Kühnen Peter, Turan Serap, Fröhler Sebastian, Güran Tülay, Abali Saygin, Biebermann Heike, Bereket Abdullah, Grüters Annette, Chen Wei, Krude Heiko

Abstract excerpt

CONTEXT: Congenital hypothyroidism, the most frequent endocrine congenital disease, can occur either based on a thyroid hormone biosynthesis defect or can predominantly be due to thyroid dysgenesis. However, a genetic cause could so far only be identified in less than 10% of patients with a thyroid dysgenesis. OBJECTIVES: Exome sequencing was used for the first time to find additional genetic defects in thyroid...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24248179
DOI: 10.1210/jc.2013-2619

Genes

FOXE1
PAX8
TSHR

Variants

Provenance

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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