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

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. DESIGN 166 blood...

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Veröffentlicht in:	Hormones (Athens, Greece) Greece), 2014, Vol.13 (1), p.74-78
Hauptverfasser:	Amor, Antonio J., Halperin, Irene, Alfayate, Rocío, Borrás, Victoria M., Escribano, Arancha, González, Cintia, Gutiérrez, Antonio, Mauri, Montserrat, Pérez, Pilar, Picó, Antonio, Vourliotaki, Irene, Oriola, Josep
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Aged Aged, 80 and over Child Child, Preschool DNA Mutational Analysis Endocrinology Female Goiter - genetics Greece Humans Hyperkinesis - genetics Infant Male Medicine Medicine & Public Health Metabolic Diseases Middle Aged Mutation Research Paper Spain Tachycardia - genetics Thyroid Hormone Receptors beta - genetics Thyroid Hormone Resistance Syndrome - genetics Young Adult
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