NOVEL VDR MUTATIONS IN PATIENTS WITH VITAMIN D-DEPENDENT RICKETS TYPE 2A: A MILD DISEASE PHENOTYPE CAUSED BY A NOVEL CANONICAL SPLICE SITE MUTATION

ABSTRACT Context: Vitamin D-dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder and is caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistanc...