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Article

Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.

The Journal of clinical endocrinology and metabolism - 1 Apr 2010

Narumi Satoshi, Muroya Koji, Asakura Yumi, Adachi Masanori, Hasegawa Tomonobu

Abstract excerpt

CONTEXT: Gene mutations of transcription factors that are predominantly expressed in the thyroid gland cause congenital hypothyroidism (CH). The prevalence of CH due to transcription factor mutations remains undetermined. OBJECTIVE: This study was designed to define the prevalence of CH due to mutations of PAX8, NKX2-1 [encoding thyroid transcription factor (TTF)-1], FOXE1 (encoding TTF-2), and NKX2-5 among...

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Source

Identifiers

PMID: 20157192
DOI: 10.1210/jc.2009-2373

Genes

PAX8
FOXE1

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.

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Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients.PMID 20157192Read ↗

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