1. Impaired activities of the three deiodinase selenoenzymes that metabolize thyroid hormone contribute to multiple endocrine phenotypes in SBP2 deficiency.
2. Heterozygous missense mutations in Deiodinase 1 in three families.
3. Common variants in deiodinase 1 limit T3 availability when endogenous thyroid hormone synthesis is absent.
- 1.00 AMA PRA Category 1 Credit™
- 1.00 Participation