Article
Vitamin D receptor polymorphisms in hypocalcemic vitamin D-resistant rickets carriers.
Hormone research - 1 Jan 2007
Nicolaidou Polyxeni, Papadopoulou Anna, Matsinos Y G, Georgouli Helen, Fretzayas Andreas, Papadimitriou Anastasios, Priftis Kostantinos, Douros Konstantinos, Chrousos George P
Abstract excerpt
BACKGROUND/AIMS: Hypocalcemic vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, secondary hyperparathyroidism, elevated levels of 1,25-dihydroxyvitamin D(3) [1,25(OH)(2)D(3)], and occasionally, alopecia. In most cases, the disease is associated with mutations in the gene of the vitamin D receptor (VDR), the mediator of 1,25(OH)(2)D(3) action....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.