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Article

Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 Feb 2008

Zamproni Ilaria, Grasberger Helmut, Cortinovis Francesca, Vigone Maria Cristina, Chiumello Giuseppe, Mora Stefano, Onigata Kazumichi, Fugazzola Laura, Refetoff Samuel, Persani Luca, Weber Giovanna

Abstract excerpt

CONTEXT: Dual oxidase 2 (DUOX2) is the catalytic core of the H(2)O(2) generator crucial for the iodination of thyroglobulin in thyroid hormone synthesis. DUOX2 deficiency produces congenital hypothyroidism (CH) in humans and mice. We recently cloned a novel gene, the product of which (dual oxidase maturation factor 2; DUOXA2) is required to express DUOX2 enzymatic activity. OBJECTIVE: Our objective was to...

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Identifiers

PMID: 18042646
DOI: 10.1210/jc.2007-2020
PMCID: PMC2243227

Genes

DUOXA2
DUOX2
DUOXA1

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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Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.PMID 18042646Read ↗

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