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Article

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

International journal of molecular sciences - 3 Aug 2024

Baz-Redón Noelia, Antolín María, Clemente María, Campos Ariadna, Mogas Eduard, Fernández-Cancio Mónica, Zafon Elisenda, García-Arumí Elena, Soler Laura, González-Llorens Núria, Aguilar-Riera Cristina, Camats-Tarruella Núria, Yeste Diego

Abstract excerpt

Thyroid dyshormonogenesis (THD) is a heterogeneous group of genetic diseases caused by the total or partial defect in the synthesis or secretion of thyroid hormones. Genetic variants in DUOX2 can cause partial to total iodination organification defects and clinical heterogeneity, from transient to permanent congenital hypothyroidism. The aim of this study was to undertake a molecular characterization and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39126042
DOI: 10.3390/ijms25158473
PMCID: PMC11313534

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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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