An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

An intronic SNP in the thyroid hormone receptor β gene is associated with pituitary cell-specific over-expression of a mutant thyroid hormone receptor β2 (R338W) in the index case of pituitary-selective resistance to thyroid hormone

<p>Abstract</p> <p>Background</p> <p>The syndrome of resistance to thyroid hormone (RTH) is caused by mutations in the thyroid hormone receptor β gene (<it>THRB</it>). The syndrome varies from asymptomatic to diffuse hypothyroidism, to pituitary-selective re...

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Bibliographic Details
Main Authors: Cochran Craig, Liu Hong, Congedo Valentina, Alberobello Anna, Skarulis Monica C, Forrest Douglas, Celi Francesco S
Format: Article
Language:English
Published: BMC 2011-08-01
Series:Journal of Translational Medicine
Online Access:http://www.translational-medicine.com/content/9/1/144

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http://www.translational-medicine.com/content/9/1/144

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