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hypophosphatemia "rickets," autosomal "recessive," 2
- ... with HHRH have experienced hypercalcuria and kidney stones. ... National Organization for Rare Disorders (NORD) ...
- ... with VDDR2A. CYP27B1 CYP2R1 VDR Vitamin D-dependent rickets is almost always inherited in an autosomal recessive pattern, which means both copies of the respective ...
- ... Hernando N, Jones G, Wagner CA, Konrad M. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol. 2016 Feb;27(2):604-14. doi: 10.1681/ASN.2014101025. Epub ...