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Article

Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report.

The Turkish journal of pediatrics - 1 Jan 2000

Işık Emregül, Beck Peccoz Paolo, Campi Irene, Özön Alev, Alikaşifoğlu Ayfer, Gönç Nazlı, Kandemir Nurgün

Abstract excerpt

Thyroid hormone resistance (THR) is a dominantly inherited syndrome characterized by reduced sensitivity to thyroid hormones. It is usually caused by mutations in the thyroid hormone receptor beta (THRB) gene. In the present report, we describe the clinical and laboratory characteristics and genetic analysis of patients with a novel THRB gene mutation. The index patient had been misdiagnosed as hyperthyroidism...

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Identifiers

PMID: 24217081

Genes

THRB

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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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