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Article

Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.

Human mutation - 1 Oct 2005

Vigone Maria Cristina, Fugazzola Laura, Zamproni Ilaria, Passoni Arianna, Di Candia Stefania, Chiumello Giuseppe, Persani Luca, Weber Giovanna

Abstract excerpt

One of the steps in thyroid hormone biosynthesis is the generation of hydrogen peroxide by dual oxidases (DUOX). Only one study reported mutations in DUOX2 gene in congenital hypothyroidism (CH) associated with total iodide organification defect (TIOD) in homozygosity or with partial iodide organification defect (PIOD) in heterozygous patients. We report genetic and phenotypic characterization of a family...

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Source

Identifiers

PMID: 16134168
DOI: 10.1002/humu.9372

Genes

DUOX2

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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Persistent mild hypothyroidism associated with novel sequence variants of the DUOX2 gene in two siblings.PMID 16134168Read ↗

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