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August 3, 2024International Journal of Molecular SciencesOpen Access

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

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

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Abstract

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

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Cite This Study

Baz-Redón et al. (2024) studied this question.

synapsesocial.com/papers/68e5d8bab6db64358756eb60 https://doi.org/10.3390/ijms25158473

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Congenital Hypothyroidism with thyroid in situ: a case report with NKX2-1 and DUOX2 hypomorphic variants2024 · 3 citations
2Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple <i>DUOX2</i> Variants2024 · 7 citations
3Genotype–Phenotype Correlation of Biallelic DUOX2 Mutations in Transient and Permanent Congenital Hypothyroidism.Original Research · 2026 · 1 citations
4Common and Rare <i>DUOX</i> Variants in Patients With Congenital Hypothyroidism: Case-control Study and Family-based AnalysisCase-Control Study · 2025 · 2 citations
5<i>DUOXA2</i> Variants as an Underrecognized Cause of Diffuse Goiter: A Euthyroid Adult Case Responsive to LevothyroxineOriginal Research · 2026