Resistance to Thyroid Hormone with Missense Mutation (V349M) in the Thyroid Hormone Receptor Beta Gene
Ji Yon Kim, Eun Suk Choi, Jong Chan Lee, Kyung Uk Lee, Yeo Joo Kim, Sang Jin Kim, Yong Wha Lee
Korean J Intern Med. 2008;23(1):45-48. Published online March 20, 2008
Resistance to thyroid hormone (RTH) is a syndrome characterized by reduced sensitivity to the thyroid hormone. It is generally caused by mutations in the thyroid hormone receptor β (TRβ) gene. On the basis of its clinical features, two different forms of this syndrome have been described: genera..
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