Article
Two Novel Mutations in the Thyroid Hormone Receptor β in Patients with Resistance to Thyroid Hormone (RTH β): Clinical, Biochemical, and Molecular Data.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Nov 2015
Esquiaveto-Aun A M, Zantut-Wittmann D E, Petroli R J, Nakano B S L, Guerra-Júnior G, de Lemos-Marini S H V, de Mello M P
Abstract excerpt
The syndrome of resistance to thyroid hormone (RTH β) is an inherited disorder characterized by variable tissue hyposensitivity to 3,5,30-L-triiodothyronine (T(3)), with persistent elevation of free-circulating T(3) (FT(3)) and free thyroxine (FT(4)) levels in association with nonsuppressed serum thyrotropin (TSH). Clinical presentation is variable and the molecular analysis of THRB gene provides a short cut...
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