Article
Hereditary 1,25-dihydroxyvitamin D-resistant rickets due to an opal mutation causing premature termination of the vitamin D receptor.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Feb 1998
Zhu W, Malloy P J, Delvin E, Chabot G, Feldman D
Abstract excerpt
Mutations in the vitamin D receptor (VDR) gene have been shown to cause hereditary vitamin D-resistant rickets (HVDRR). The patient in this study is a young French-Canadian boy with no known consanguinity in his family. The child exhibited the clinical characteristics of HVDRR with early onset ri...
Topics
- Alopecia
- Calcitriol
- Cells, Cultured
- Cytochrome P-450 Enzyme System
- Fibroblasts
- Gene Expression Regulation, Enzymologic
- Humans
- Hyperparathyroidism
- Hypocalcemia
- Hypophosphatemia, Familial
- Male
- Mutation
- Polymorphism, Restriction Fragment Length
- Receptors, Calcitriol
- Rickets
- Skin
- Steroid Hydroxylases
- Vitamin D