Article
Vitamin D-dependent rickets type II: report of a novel mutation in the vitamin D receptor gene.
Archives of Iranian medicine - 1 May 2008
Shafeghati Yousef, Momenin Nima, Esfahani Taher, Reyniers Edwin, Wuyts Wim
Abstract excerpt
Hereditary vitamin D-resistant rickets type or vitamin D-dependent rickets type II is a genetically determined and rare autosomal recessive disorder, most often caused by mutations in the vitamin D receptor gene. It usually presents with rachitic changes not responsive to vitamin D treatment and the circulating levels of 1,25 (OH)2 vitamin D-3 are elevated, differentiating it from vitamin D-dependent rickets type...
Topics
- Alopecia Areata
- Child, Preschool
- Consanguinity
- Exons
- Familial Hypophosphatemic Rickets
- Female
- Genetic Carrier Screening
- Glycine
- Humans
- Infant
- Iran
- Male
- Mutation
- Pedigree
- Receptors, Calcitriol
- Sequence Analysis
- Siblings