Thyroid hormone receptor-β gene mutations

Identification of four novel mutations in the thyroid hormone receptor-β gene in 164 Spanish and 2 Greek patients with resistance to thyroid hormone

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Antonio J. Amor, Irene Halperin, Rocίo Alfayate, Victoria M. Borrás, Arancha Escribano, Cintia González, Antonio Gutirrez, Montserrat Mauri, Pilar Pérez, Antonio Picό, Irene Vourliotaki, Josep Oriola

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OBJECTIVE: The aim of the study was to describe the clinical, biochemical, and genetic features of a sample of Mediterranean patients with RTH (resistance to thyroid hormone) due to mutations in TRβ (thyroid hormone receptor beta) referred to our institution during the last 15 years …