Siblings with vitamin D‐dependent rickets type 1A: Importance of genetic testing and a review of genotype–phenotype correlations
Leonard Kuan‐Pei Wang,
Manjushree Shanmugasundaram,
Erin Cooney
et al.
Abstract:Vitamin D‐dependent rickets type 1A (VDDR1A) is a rare condition caused by biallelic pathogenic variants in CYP27B1, which encodes 25‐hydroxyvitamin D3‐1‐α‐hydroxylase. Inadequate activity of this enzyme results in deficient 1α‐hydroxylation of inactive 25‐hydroxyvitamin D to biologically active 1,25‐dihydroxyvitamin D, with consequent adverse effects on calcium and phosphate metabolism. A female child was clinically diagnosed at 18 months old with hypophosphatemic rickets based on phenotype and biochemical te… Show more
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