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A new TRβ mutation in resistance to thyroid hormone syndrome.

Hormones (Athens, Greece) - 1 Oct 2016

Neamţu Corina, Ţupea Claudiu, Păun Diana, Hoisescu Anca, Ghemigian Adina, Refetoff Samuel, Sriphrapradang Chutintorn

Abstract excerpt

Thyroid hormones (TH) exert their actions by binding nuclear receptors alpha (TRα1) and beta (TRß1 and TRß2). Resistance to thyroid hormone (RTH) is a clinical syndrome with various clinical manifestations, its hallmark being decreased tissue sensitivity to the action of thyroid hormones. We report the case of a family harbouring a novel TRß mutation. Sequencing of the TRβ gene revealed a single nucleotide...

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Identifiers

PMID: 28222413
DOI: 10.14310/horm.2002.1700

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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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