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Calcitriol-resistant rickets due to vitamin D receptor defects

✍ Scribed by Ze'ev Hochberg; Yossef Weisman


Book ID
116172327
Publisher
Elsevier Science
Year
1995
Tongue
English
Weight
827 KB
Volume
6
Category
Article
ISSN
1043-2760

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Hereditary vitamin D–resistant rickets (
✍ 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