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Article

Spectrum of Human Foxe1/TTF2 Mutations.

Hormone research in paediatrics - 1 Jan 2010

Castanet Mireille, Polak Michel

Abstract excerpt

FOXE1 (or TTF-2) has been recognized as one of the thyroid dysgenesis (TD)-related genes based on its early expression at the thyroid bud stage and on the finding in Foxe1 knock-out mice of a sublingual or absent thyroid gland. In humans, three homozygous loss-of-function missense mutations locat...

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Source

Identifiers

PMID: 20453517
DOI: 10.1159/000281438

Genes

FOXE1
TTF2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20453517-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Spectrum of Human Foxe1/TTF2 Mutations.PMID 20453517Read ↗

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A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palateSemantic proximity Read ↗

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