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A Novel Inborn Error in the Ligand-Binding Domain of the Vitamin D Receptor Causes Hereditary Vitamin D-Resistant Rickets

✍ Scribed by Peter J. Malloy; Wenjing Zhu; Xiao-Yan Zhao; Gregory B. Pehling; David Feldman


Book ID
115639858
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
263 KB
Volume
73
Category
Article
ISSN
1096-7192

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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