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Article

TRα receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone.

Presse medicale (Paris, France : 1983) - 1 Nov 2015

Vlaeminck-Guillem Virginie, Espiard Stéphanie, Flamant Frédéric, Wémeau Jean-Louis

Abstract excerpt

Since 2012, eight different abnormalities have been described in the THRA gene (encoding the TRα1 thyroid hormone receptor) of 14 patients from 9 families. These mutations induce a clinical phenotype (resistance to thyroid hormone type α) associating symptoms of untreated mild congenital hypothyroidism and a near-normal range of free and total thyroid hormones and TSH (the T4/T3 ratio is nevertheless usually...

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Source

Identifiers

PMID: 26585273
DOI: 10.1016/j.lpm.2015.07.022

Genes

THRA

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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