Article
Association between an R338L mutation in the thyroid hormone receptor-beta gene and thyrotoxic features in two unrelated kindreds with resistance to thyroid hormone.
Thyroid : official journal of the American Thyroid Association - 1 Jan 1999
Menzaghi C, Balsamo A, Di Paola R, Gallone G, Rossi C, Tassi V, Fonzo D, De Filippis V
Abstract excerpt
Resistance to thyroid hormone (RTH) is a rare syndrome characterized by reduced sensitivity to thyroid hormone due to thyroid hormone receptor-beta (TRbeta) gene mutations or deletion. RTH has been classified on the basis of clinical features into generalized (GRTH) and pituitary (PRTH) resistance. There is, however, overlap of clinical and biochemical findings in patients with the two forms of resistance, and...
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