Article
Correlations of language abnormalities with localization of mutations in the beta-thyroid hormone receptor in 13 kindreds with generalized resistance to thyroid hormone: identification of four new mutations.
The Journal of clinical endocrinology and metabolism - 1 Oct 1992
Mixson A J, Parrilla R, Ransom S C, Wiggs E A, McClaskey J H, Hauser P, Weintraub B D
Abstract excerpt
Generalized resistance to thyroid hormone is an inherited disease characterized by unresponsiveness of pituitary and peripheral tissues to thyroid hormone. Genetic analysis of several kindreds linked this syndrome to the gene for the beta-form of the thyroid hormone receptor, and this led to the subsequent identification of various mutations in the ligand-binding domain of this receptor. In this region we now...
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