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Relation between hypomineralized periosteocytic lesions and bone mineralization in vitamin D-resistant rickets

✍ Scribed by Pierre J. Marie; Francis H. Glorieux


Publisher
Springer
Year
1983
Tongue
English
Weight
831 KB
Volume
35
Category
Article
ISSN
1432-0827

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Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disease caused by mutations in the vitamin D receptor (VDR). Patients exhibit severe rickets and hypocalcemia. Heterozygous parents and siblings appear normal and exhibit no symptoms of the disease. We analyzed the VDR gene

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## Abstract The effect of low vitamin D levels in children with bone fragility disorders has not been examined in detail. In this study, we evaluated the relationship between vitamin D status and parameters of skeletal mineralization, mass, and metabolism in a group of pediatric osteogenesis imperf