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Article

Mosaicism of a thyroid hormone receptor-beta gene mutation in resistance to thyroid hormone.

The Journal of clinical endocrinology and metabolism - 1 Sept 2006

Mamanasiri Sunee, Yesil Sena, Dumitrescu Alexandra M, Liao Xiao-Hui, Demir Tevfik, Weiss Roy E, Refetoff Samuel

Abstract excerpt

CONTEXT: Heterozygous mutations in thyroid hormone receptor-beta (TRbeta) gene are the cause of resistance to thyroid hormone (RTH) in more than 85% of families having the syndrome. In 23% of the families, TRbeta gene mutations occur de novo. Of the 141 families with RTH investigated by us, 21 (15%) had no TRbeta gene mutations detectable by sequencing from genomic DNA (gDNA) or cDNA (non-TR RTH). OBJECTIVE: The...

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Identifiers

PMID: 16804041
DOI: 10.1210/jc.2006-0727

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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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