Article
Hereditary vitamin D resistant rickets caused by a novel mutation in the vitamin D receptor that results in decreased affinity for hormone and cellular hyporesponsiveness.
The Journal of clinical investigation - 15 Jan 1997
Malloy P J, Eccleshall T R, Gross C, Van Maldergem L, Bouillon R, Feldman D
Abstract excerpt
Mutations in the vitamin D receptor (VDR) result in target organ resistance to 1alpha,25-dihydroxyvitamin D [1,25(OH)2D3], the active form of vitamin D, and cause hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR). We analyzed the VDR of a patient who exhibited three genetic diseases: H...
Topics
- Calcitriol
- Child, Preschool
- Dose-Response Relationship, Drug
- Fibroblasts
- Heterozygote
- Homozygote
- Humans
- Hypophosphatemia, Familial
- Lipodystrophy
- Male
- Mullerian Ducts
- Mutation
- Polymorphism, Restriction Fragment Length
- Receptors, Calcitriol