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Article

High frequency of DUOX2 mutations in transient or permanent congenital hypothyroidism with eutopic thyroid glands.

Hormone research in paediatrics - 1 Jan 2014

Jin Hye Young, Heo Sun-Hee, Kim Yoo-Mi, Kim Gu-Hwan, Choi Jin-Ho, Lee Beom-Hee, Yoo Han-Wook

Abstract excerpt

BACKGROUND/AIMS: This study aimed to clarify the frequency, phenotypes, and molecular spectrum of DUOX2, TPO, TSHR, and TG mutations in patients with congenital hypothyroidism (CH) with enlarged or normal-sized eutopic thyroid glands. METHODS: The study cohort included 43 subjects from 41 unrelated families who had CH with eutopic thyroid glands. Mutation analyses of DUOX2, TPO, and TSHR were performed. The...

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Source

Identifiers

PMID: 25248169
DOI: 10.1159/000362235

Genes

DUOX2
TSHR
TPO

Variants

Provenance

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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