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Article

Thyroid hormone receptor beta gene mutation (P453A) in a family producing resistance to thyroid hormone.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Jan 2009

Bayraktaroglu T, Noel J, Alagol F, Colak N, Mukaddes N M, Refetoff S

Abstract excerpt

BACKGROUND: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome characterized by decreased responsiveness of target tissues to thyroid hormone. Two members of a Turkish family, a mother and son, had thyroid function tests suggestive of resistance to thyroid hormone (RTH). METHODS: The clinical presentation was, however, different. The mother (proposita) had palpitation, weakness, tiredness,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 18561095
DOI: 10.1055/s-2008-1076712
PMCID: PMC5796805

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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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