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Article

Contrasting Phenotypes in Resistance to Thyroid Hormone Alpha Correlate with Divergent Properties of Thyroid Hormone Receptor α1 Mutant Proteins.

Thyroid : official journal of the American Thyroid Association - 1 Jul 2017

Moran Carla, Agostini Maura, McGowan Anne, Schoenmakers Erik, Fairall Louise, Lyons Greta, Rajanayagam Odelia, Watson Laura, Offiah Amaka, Barton John, Price Susan, Schwabe John, Chatterjee Krishna

Abstract excerpt

BACKGROUND: Resistance to thyroid hormone alpha (RTHα), a disorder characterized by tissue-selective hypothyroidism and near-normal thyroid function tests due to thyroid receptor alpha gene mutations, is rare but probably under-recognized. This study sought to correlate the clinical characteristics and response to thyroxine (T4) therapy in two adolescent RTHα patients with the properties of the THRA mutation,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28471274
DOI: 10.1089/thy.2017.0157
PMCID: PMC5561448

Genes

THRA
KLF9

Variants

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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