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Article

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Frontiers in endocrinology - 1 Jan 2024

Fernández-Cancio Mónica, Antolín María, Clemente María, Campos-Martorell Ariadna, Mogas Eduard, Baz-Redón Noelia, Leno-Colorado Jordi, Comas-Armangué Gemma, García-Arumí Elena, Soler-Colomer Laura, González-Llorens Núria, Camats-Tarruella Núria, Yeste Diego

Abstract excerpt

Introduction: Defects in any thyroid hormone synthesis steps cause thyroid dyshormonogenesis (THD). THD due to thyroglobulin (TG) gene variants is a cause of congenital hypothyroidism (CH) with a wide clinical spectrum, ranging from mild to severe permanent hypothyroidism. We present high-throughput sequencing results of patients with TG variants. Methods: A CH high-throughput sequencing-panel of the main genes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39040671
DOI: 10.3389/fendo.2024.1367808
PMCID: PMC11260715

Genes

TG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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