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Diagnosis of Resistance to Thyroid Hormone due to a Rare Mutation in the Thyroid Hormone Receptor Beta Gene in a Patient Previously Presumed to Have Graves' Disease.

Military medicine - 23 Jan 2024

Olatunbosun Samuel T, Kluesner Joseph K, Clerc Philip G, Prasad Shalvin S

Abstract excerpt

Clinicians may confuse an impaired sensitivity to thyroid hormone with hyperthyroidism and offer an inappropriate treatment. We report a diagnosis of resistance to thyroid hormone (RTH) caused by a rare mutation in the thyroid hormone receptor beta gene in a patient previously presumed to have Graves' disease. We have found only one published case of a novel point mutation, c.749T>C (p.Ile250Thr variant)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 37531455
DOI: 10.1093/milmed/usad283

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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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