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Identification of a de novo mutation (H435Y) in the THRB gene in a Korean patient with resistance to thyroid hormone

Jin Young Shin, Chang-Seok Ki, Jin Kyung Kim

Clin Exp Pediatr. 2007;50(6):576-579. Published online June 15, 2007

The syndrome of resistance to thyroid hormone (RTH) is characterized by reduced tissue sensitivity to thyroid hormone (TH). In the majority of subjects, RTH is caused by mutations in the thyroid hormone receptor beta (TRβ) gene, located on the chromosome locus 3p24.3. RTH is inherited in an autosomal dominant manner. The clinical presentation of RTH is variable, but common features...

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