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Article

Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Aug 2010

Castanet Mireille, Mallya Uma, Agostini Maura, Schoenmakers Erik, Mitchell Catherine, Demuth Stephanie, Raymond F Lucy, Schwabe John, Gurnell Mark, Chatterjee V Krishna

Abstract excerpt

CONTEXT: Homozygous loss-of-function mutations in forkhead box E1/thyroid transcription factor 2 (FOXE1/TTF-2) cause syndromic congenital hypothyroidism, with thyroid dysgenesis, cleft palate, spiky hair, and variable choanal atresia and bifid epiglottis in three cases reported hitherto. We have...

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Source

Identifiers

PMID: 20484477
DOI: 10.1210/jc.2010-0275

Genes

FOXE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20484477-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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Maternal isodisomy for chromosome 9 causing homozygosity for a novel FOXE1 mutation in syndromic congenital hypothyroidism.PMID 20484477Read ↗

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