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Article

A novel mutation of thyroid hormone receptor beta (I431V) impairs corepressor release, and induces thyroid hormone resistance syndrome.

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2008

Ferreira Azevedo Monalisa, Barra Gustavo Barcelos, Medeiros Ligiane Dantas de, Simeoni Luiz Alberto, Naves Luciana Ansaneli, Neves Francisco de A Rocha

Abstract excerpt

Resistance to thyroid hormone (RTH) is a rare disorder characterized by variable tissue hyporesponsiveness to thyroid hormone, usually caused by mutations in the thyroid hormone receptor beta (TRbeta). We describe a large Brazilian family harboring a novel mutation affecting TRbeta gene and inducing RTH. A 14-year-old girl was found to have elevated free T4 and free T3 plasma concentrations in coexistence with...

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Identifiers

PMID: 19169485
DOI: 10.1590/s0004-27302008000800016

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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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