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Article

Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha.

Biochimica et biophysica acta - 1 Jul 2013

Schoenmakers Nadia, Moran Carla, Peeters Robin P, Visser Theo, Gurnell Mark, Chatterjee Krishna

Abstract excerpt

BACKGROUND: Thyroid hormone acts via receptor subtypes (TRα1, TRβ1, TRβ2) with differing tissue distributions, encoded by distinct genes (THRA, THRB). THRB mutations cause a disorder with central (hypothalamic-pituitary) resistance to thyroid hormone action with markedly elevated thyroid hormone and normal TSH levels. SCOPE OF REVIEW: This review describes the clinical features, genetic and molecular pathogenesis...

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Source

Identifiers

PMID: 23528896
DOI: 10.1016/j.bbagen.2013.03.018

Genes

THRA
THRB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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