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Article

Congenital hypothyroidism caused by new mutations in the thyroid oxidase 2 (THOX2) gene.

Clinical endocrinology - 1 Dec 2006

Pfarr Nicole, Korsch Eckhard, Kaspers Stefan, Herbst Antje, Stach Armin, Zimmer Claudia, Pohlenz Joachim

Abstract excerpt

OBJECTIVE: Congenital primary hypothyroidism (CH) occurs in one of 4000 births and in 20% of the cases CH is due to a defect in thyroid hormonogenesis. Candidate genes were examined to determine the precise aetiology of suspected dyshormonogenesis in CH. DESIGN: The genes that code for thyroid peroxidase (TPO), pendrin (PDS), sodium iodide symporter (NIS) and thyroid oxidase 2 (THOX2) were sequenced directly from...

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Source

Identifiers

PMID: 17121535
DOI: 10.1111/j.1365-2265.2006.02672.x

Genes

TPO

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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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