Novel VDR Mutations in Patients with Vitamin D–Dependent Rickets Type 2a: A Mild Disease Phenotype Caused by A Novel Canonical Splice-Site Mutation

Objective: Vitamin D–dependent rickets type 2A (VDDR2A) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor gene (VDR), leading to end-organ resistance to 1,25-dihydroxyvitamin D3 (1,25[OH]2D3). The objective of this study was to investigate VDR mutations in 11 patients from 8 Turkish-Arab...