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A Mutated Vitamin D Receptor in Hereditary Vitamin D-Resistant Rickets Prevents Induction of Bronchial Hyperreactivity and Inflammation

✍ Scribed by Bar-Yoseph, Ronen; Bentur, Lea; Goldbart, Aviv; Livnat, Galit; Hakim, Fahed; Weisman, Yosef; Tiosano, Dov


Book ID
127015717
Publisher
Endocrine Society
Year
2014
Tongue
English
Weight
250 KB
Volume
99
Category
Article
ISSN
0021-972X

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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