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Article

Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.

Current topics in developmental biology - 1 Jan 2017

van Gucht Anja L M, Moran Carla, Meima Marcel E, Visser W Edward, Chatterjee Krishna, Visser Theo J, Peeters Robin P

Abstract excerpt

BACKGROUND: Thyroid hormone (TH) acts via nuclear thyroid hormone receptors (TRs). TR isoforms (TRα1, TRα2, TRβ1, TRβ2) are encoded by distinct genes (THRA and THRB) and show differing tissue distributions. Patients with mutations in THRB, exhibiting resistance within the hypothalamic-pituitary-thyroid axis with elevated TH and nonsuppressed thyroid-stimulating hormone (TSH) levels, were first described decades...

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Source

Identifiers

PMID: 28527577
DOI: 10.1016/bs.ctdb.2017.02.001

Genes

THRA
THRB

Provenance

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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