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Article

Germ Line Mutations in the Thyroid Hormone Receptor Alpha Gene Predispose to Cutaneous Tags and Melanocytic Nevi.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2021

Di Cicco Emery, Moran Carla, Visser W Edward, Nappi Annarita, Schoenmakers Erik, Todd Pamela, Lyons Greta, Dattani Mehul, Ambrosio Raffaele, Parisi Silvia, Salvatore Domenico, Chatterjee Krishna, Dentice Monica

Abstract excerpt

Background: Many physiological effects of thyroid hormone (TH) are mediated by its canonical action via nuclear receptors (TH receptor α and β [TRα and TRβ]) to regulate transcription of target genes. Heterozygous dominant negative mutations in human TRα mediate resistance to thyroid hormone alpha (RTHα), characterized by features of hypothyroidism (e.g., skeletal dysplasia, neurodevelopmental retardation,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33509032
DOI: 10.1089/thy.2020.0391
PMCID: PMC8290313

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