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Article

Heterozygous Mutations of the DUOXA2 and DUOX2 Genes in Dizygotic Twins with Congenital Hypothyroidism.

Clinical laboratory - 1 Jan 2016

Yang Liu-Xue, Ma Shao-Gang, Qiu Ya-Li, Zheng Xiao

Abstract excerpt

BACKGROUND: The mutations in the dual oxidase maturation factor 2 (DUOXA2) and dual oxidase 2 (DUOX2) genes have been identified in patients with congenital hypothyroidism (CH). This study reports a set of dizygotic twins with CH due to the mutations in the DUOX2/DUOXA2 system. METHODS: The dizygotic twins, a boy and a girl, both aged 7 years, were born to euthyroid nonconsanguineous parents; they were diagnosed...

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Source

Identifiers

PMID: 27349010
DOI: 10.7754/clin.lab.2015.150840

Genes

DUOX2
DUOXA2
PAX8
TPO
TSHR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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