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Article

A newly identified insertion mutation in the thyroid hormone receptor-beta gene in a Korean family with generalized thyroid hormone resistance.

Journal of Korean medical science - 1 Jun 2007

Kim Ji Hye, Park Tae Sun, Baek Hong Sun, Kim Gu Hwan, Yoo Han Wook, Park Ji Hyun

Abstract excerpt

Thyroid hormone resistance syndrome (RTH) is a rare disorder and is characterized by elevated levels of circulating free thyroid hormones, inappropriate secretion of thyroid stimulating hormone (TSH), and reduced peripheral tissue response to thyroid hormone. 90% of RTH subjects, when studied at the level of the gene, have been found to harbor mutations in the thyroid hormone receptor-beta(THRB) gene. These...

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Source

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Identifiers

PMID: 17596672
DOI: 10.3346/jkms.2007.22.3.560
PMCID: PMC2693656

Genes

THRB

Provenance

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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