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Lesion of the Bone Matrix in Vitamin D-resistant Rickets

✍ Scribed by STEENDIJK, R.; VAN DEN HOOFF, A.; NIELSEN, H. K. L.; JOWSEY, J.

Book ID
109645129
Publisher
Nature Publishing Group
Year
1965
Tongue
English
Weight
432 KB
Volume
207
Category
Article
ISSN
0028-0836

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Hereditary vitamin D–resistant rickets (
Hereditary vitamin D–resistant rickets (HVDRR) owing to a heterozygous mutation in the vitamin D receptor
✍ Peter J Malloy; Yulin Zhou; Jining Wang; Olaf Hiort; David Feldman πŸ“‚ Article πŸ“… 2011 πŸ› American Society for Bone and Mineral Research 🌐 English βš– 408 KB

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