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Clinical features and genetic analysis of four Brazilian kindreds with resistance to thyroid hormone.

Clinical endocrinology - 1 Nov 2007

Magalhães Patricia Künzle Ribeiro, Rodrigues Dare Gustavo Leopoldo, Rodrigues Dos Santos Sandra, Nogueira Celia Regina, de Castro Margaret, Zanini Maciel Lea Maria

Abstract excerpt

OBJECTIVE: Resistance to thyroid hormone (RTH) is a dominantly inherited syndrome of reduced tissue responsiveness to thyroid hormone usually due to mutations located in the ligand-binding domain and adjacent hinge region of the thyroid hormone receptor beta (TRbeta). In the present report we describe the clinical and laboratory characteristics and the genetic analysis of patients with this rare disorder from a...

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PMID: 17610520
DOI: 10.1111/j.1365-2265.2007.02956.x

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