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Vitamin D-Resistant Rickets (VDR) is a bone disease caused by an enzymatic pathway defect.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Mode of Inheritance | |
| Chromosome | |
| Year Published |
Informations générales
Vitamin D-Resistant Rickets (VDR) is a bone disease caused by an enzymatic pathway defect. Rickets, also known as osteomalacia, is usually due to a lack of vitamin D or calcium, which can occur because of environmental and/or genetic factors. VDR causes symptoms that look the same as seen in individuals suffering from non-genetic lack of vitamin D.
Caractéristiques cliniques
The symptoms are the same as those observed in non-genetic vitamin D deficiency, which usually result from a dietary calcium shortage. This leads to poor bone mineralization and eventually to skeletal deformities, pathologic fractures and delayed tooth development.
Additional Information
Références
Pubmed ID: 22553308
Omia ID: 837