Article
Resistance to thyroid hormone in a family with no TRbeta gene anomaly: pathogenic hypotheses.
Annales d'endocrinologie - 1 Sept 2000
Vlaeminck-Guillem V, Margotat A, Torresani J, D'herbomez M, Decoulx M, Wémeau J L
Abstract excerpt
UNLABELLED: Syndromes of resistance to thyroid hormone (RTH) are almost always linked to a defective triiodothyronine-receptor B gene (TRB). Only six families with RTH exhibiting a normal TRB gene have been reported so far. We report another and discuss possible mechanisms. PATIENTS AND METHODS: We studied a kindred expressing a typical RTH phenotype. DNA was amplified and the TRB gene was sequenced. Linkage...
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