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A homozygous mutation in the DNA binding domain of human vitamin D receptor causes vitamin D resistant rickets

✍ Scribed by B.C. van der Eerden⁎; J.C. van der Heyden; J.P. van Hamburg; M. Schreuders-Koedam; P.S. Asmawidjaja; S.M. de Muinck Keizer-Schrama; E. Lubberts; S.L. Drop; J.P. van Leeuwen


Book ID
116325222
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
65 KB
Volume
50
Category
Article
ISSN
8756-3282

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Hereditary vitamin D–resistant rickets (
✍ Peter J Malloy; Yulin Zhou; Jining Wang; Olaf Hiort; David Feldman 📂 Article 📅 2011 🏛 American Society for Bone and Mineral Research 🌐 English ⚖ 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