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Article

[Identification of eight new mutations in the c-erbAB gene of patients with resistance to thyroid hormone].

Annales d'endocrinologie - 1 Jun 2001

Margotat A, Sarkissian G, Malezet-Desmoulins C, Peyrol N, Vlaeminck Guillem V, Wémeau J L, Torresani J

Abstract excerpt

Resistance to thyroid hormone (RTH) is a rare genetic disorder, usually associated with different mutations in the c-erbAB gene that encodes the beta type receptor of thyroid hormone (TRB). It is characterized by elevated serum thyroid hormone and inappropriate TSH secretion. The numerous mutations so far detected are clustered in three hot spot areas in the ligand binding domain of TRB. In the context of a...

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PMID: 11458173

Genes

TRB

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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