Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings
| Author | Ali Akbar Khorsandi | en |
| Author | Atieh Amouzegar | en |
| Author | Ali Asghar Mir Saeid Ghazi | en |
| Author | Marjan Zarif Yeganeh | en |
| Author | Shahram Alamdari | en |
| Author | Alireza Amirbaigloo | en |
| Author | Fereidoun Azizi | en |
| Author | Fereidoun Azizi Dr. Azita Zadeh-Vakili | en |
| Author | Alireza Amirbaigloo | en |
| Orcid | Fereidoun Azizi [0000-0002-6470-2517] | en |
| Issued Date | 2017-07-31 | en |
| Abstract | Hereditary vitamin D resistant rickets (HVDRR) is a rare disease that presents with signs and symptoms of rickets, alopecia, and growth retardation during the early years of life. The disease is caused by mutations in the vitamin D receptor (VDR) gene, which leads to unresponsiveness of the mutant receptor to 1-25(OH) 2 D3. The disease is transmitted as an autosomal recessive disorder and is found with equal frequency in males and females. The disease is rarely encountered and only about 100 cases are reported so far. The current paper reported the clinical and laboratory characteristics of 2 Iranian siblings with this disorder. | en |
| DOI | https://doi.org/10.5812/ijem.12384 | en |
| Publisher | Brieflands | en |
| Title | Hereditary Vitamin D Resistant Rickets: Clinical, Laboratory, and Genetic Characteristics of 2 Iranian Siblings | en |
| Type | Case Report | en |