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Article

Novel genetic variants in the TPO gene cause congenital hypothyroidism.

Scandinavian journal of clinical and laboratory investigation - 1 Jan 2015

Ma Shao-Gang, Qiu Ya-Li, Zhu Hong, Liu Hong, Li Qing, Ji Chun-Mei

Abstract excerpt

BACKGROUND: Mutations in the dual oxidase maturation factor 2 (DUOXA2) and thyroid peroxidase (TPO) genes have been reported to cause goitrous congenital hypothyroidism (GCH). The aim of this study was to determine the genetic basis of GCH in affected children. METHODS: Thirty children with GCH were enrolled for molecular analysis of the DUOXA2 and TPO genes. All subjects underwent clinical examination and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26174974
DOI: 10.3109/00365513.2015.1055789

Genes

TPO
DUOXA2

Variants

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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