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Autosomal recessive infantile hypercalcemia
- ... individuals with one altered copy of the gene. Autosomal recessive infantile hypercalcemia IIH Vitamin D hypersensitivity Genetic Testing Registry: Autosomal ...
- ... 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): ...
- ... forms of hypophosphatasia can have either an autosomal recessive or an autosomal dominant pattern of inheritance. Autosomal ... National Organization for Rare Disorders (NORD) ...