Vitamin D hydroxylation-deficient rickets type 1B is a vitamin D depentend form or rickets that is aused by deficient 25-hydroxylation of vitamin D (CYP2R1 gene).
1. |
Cheng JB et al. (2004) Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. |
2. |
Casella SJ et al. (1994) A possible genetic defect in 25-hydroxylation as a cause of rickets. |
3. |
OMIM.ORG article Omim 600081 |