1. Genetic defects in the SBP2 gene result in impaired selenoprotein synthesis.
2. Patients with SBP2 deficiency manifest a multiorgan syndrome including complex endocrine phenotypes.
3. The mouse model of SBP2 deficiency replicates the human syndrome and has been used in translational research to uncover mechanisms responsible for the observed phenotypes.
- 1.00 AMA PRA Category 1 Credit™
- 1.00 Participation