Vitamin D receptor mutations in patients with hereditary 1, 25-dihydroxyvitamin D-resistant rickets
PJ Malloy, V Tasic, D Taha, F Tütüncüler… - Molecular genetics and …, 2014 - Elsevier
Context Hereditary vitamin D resistant rickets (HVDRR), also known as vitamin D-dependent
rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets
with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused
by mutations in the vitamin D receptor (VDR) gene. The human gene encoding the VDR is
located on chromosome 12 and comprises eight coding exons and seven introns.
Objectives, patients, and methods We analyzed the VDR gene of 5 previously unreported …
rickets type II, is an autosomal recessive disorder characterized by the early onset of rickets
with hypocalcemia, secondary hyperparathyroidism and hypophosphatemia and is caused
by mutations in the vitamin D receptor (VDR) gene. The human gene encoding the VDR is
located on chromosome 12 and comprises eight coding exons and seven introns.
Objectives, patients, and methods We analyzed the VDR gene of 5 previously unreported …