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Article

Enhanced levels of wild-type versus mutant thyroid hormone receptor beta 1 messenger RNA in fibroblasts from heterozygotes of kindred S with thyroid hormone resistance.

Thyroid : official journal of the American Thyroid Association - 1 Jun 1996

Bercu B B, Usala S J, Klann R C, Root A W, Nguyen U K, Torres B, Holbrook C T

Abstract excerpt

Thyroid hormone resistance syndromes, which result from heterozygous mutations in the beta 1 thyroid hormone receptor gene, are sometimes associated with adult short stature, but more frequently with delayed bone age (BA). Primary fibroblasts from young children with both delayed BA and short stature from a kindred A have been reported to overexpress the mutant allele. However, in fibroblasts from affected...

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Identifiers

PMID: 8837325
DOI: 10.1089/thy.1996.6.189

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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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