Genotype, phenotype characteristics and long-term follow-up of patients with Vitamin D Dependent Rickets Type IA (VDDR1A): A nationwide multi-centre retrospective cross-sectional study
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Introduction: Vitamin D Dependent Rickets Type IA (VDDR1A) is an autosomal recessive disorder characterized by defects in the biosynthesis of its active form 1,25-dihydroxyvitamin D due to mutations in the CYP27B1 gene which enco... ...
