Title : A Novel G385E Variant in the Cold Region of the T3-Binding Domain of Thyroid Hormone Receptor Beta Gene and Investigations to Assess Its Clinical Significance.

Pub. Date : 2019 Dec

PMID : 31934554






1 Functional Relationships(s)
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1 Background: Resistance to thyroid hormone beta (RTHbeta) is characterized by elevated thyroid hormone and unsuppressed thyroid-stimulating hormone (TSH), caused by thyroid hormone receptor beta gene (THRB) defects. Thyrotropin thyroid hormone receptor beta Homo sapiens