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Article

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

International journal of molecular sciences - 18 Sept 2024

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

Abstract excerpt

Genetic defects in the TSH receptor (TSHR) can cause poor thyroid differentiation (thyroid dysgenesis) and/or thyroid malfunction (thyroid dyshormonogenesis). The phenotype spectrum is wide: from severe congenital hypothyroidism to mild hyperthyrotropinemia. Over 250 TSHR variants have been published, many uncharacterized in vitro. We aimed to genetically characterize patients with thyroid dyshormonogenesis with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39337518
DOI: 10.3390/ijms251810032
PMCID: PMC11432690

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