Article
Thyroid Hormone Metabolism Defects in a Mouse Model of SBP2 Deficiency
28 Sept 2017
Abstract excerpt
Selenocysteine insertion sequence binding protein 2 (SBP2) is an essential factor in selenoprotein synthesis. Patients with SBP2 defects have a characteristic thyroid phenotype and additional manifestations such as growth delay, male infertility, impaired motor coordination, and developmental delay. The thyroid phenotype has become pathognomonic for this defect, and putative deficiencies in the iodothyronine...
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