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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 located within the forkhead domain have been reported in 5 patients with Bamforth syndrome. This syndrome is a rare...

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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

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A new FOXE1 homozygous frameshift variant expands the genotypic and phenotypic spectrum of Bamforth-Lazarus syndrome.Semantic proximity Read ↗

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

Distribution of the <i>titf2/foxe1</i> gene product is consistent with an important role in the development of foregut endoderm, palate, and hairSemantic proximity Read ↗

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<i>PAX8</i>,<i>TITF1</i>, and<i>FOXE1</i>Gene Expression Patterns during Human Development: New Insights into Human Thyroid Development and Thyroid Dysgenesis-Associated MalformationsSemantic proximity Read ↗

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