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Article

A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.

The Journal of clinical endocrinology and metabolism - 1 Aug 2015

Espiard Stéphanie, Savagner Frédérique, Flamant Frédéric, Vlaeminck-Guillem Virginie, Guyot Romain, Munier Mathilde, d'Herbomez Michele, Bourguet William, Pinto Graziella, Rose Christian, Rodien Patrice, Wémeau Jean-Louis

Abstract excerpt

CONTEXT: RTHα is a recently discovered resistance to thyroid hormone (RTH) due to mutation of THRA, the gene encoding TRα1, the thyroid hormone receptor. It has been described in a few patients with growth retardation, short stature, and a low free T4/free T3 (FT4/FT3) ratio. OBJECTIVE: A 27-year-old patient presenting with dwarfism and a low FT4/FT3 ratio was investigated. DESIGN: Clinical, biochemical, and...

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Source

Identifiers

PMID: 26037512
DOI: 10.1210/jc.2015-1120

Genes

THRA
SHBG

Variants

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.

Related research

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Research trail→

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A Novel Mutation in THRA Gene Associated With an Atypical Phenotype of Resistance to Thyroid Hormone.PMID 26037512Read ↗

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (THRA).Semantic proximity Read ↗

TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.Semantic proximity Read ↗

Resistance to thyroid hormone caused by a mutation in thyroid hormone receptor (TR)α1 and TRα2: clinical, biochemical, and genetic analyses of three related patientsSemantic proximity Read ↗

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

Resistance to Thyroid Hormone due to Heterozygous Mutations in Thyroid Hormone Receptor Alpha.Semantic proximity Read ↗

Resistance to thyroid hormone due to defective thyroid receptor alpha.Semantic proximity Read ↗

Diverse Genotypes and Phenotypes of Three Novel Thyroid Hormone Receptor-α Mutations.Semantic proximity Read ↗

Resistance to thyroid hormone mediated by defective thyroid hormone receptor alpha.Semantic proximity Read ↗

Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.Semantic proximity Read ↗

Resistance to thyroid hormone α, revelation of basic study to clinical consequences.Semantic proximity Read ↗

A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.Semantic proximity Read ↗

CRISPR/Cas9 Editing of the Mouse Thra Gene Produces Models with Variable Resistance to Thyroid Hormone.Semantic proximity Read ↗

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