Hereditary vitamin Dβresistant rickets (
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Peter J Malloy; Yulin Zhou; Jining Wang; Olaf Hiort; David Feldman
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Article
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2011
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American Society for Bone and Mineral Research
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English
β 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