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Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene.
Choe Y, Shin CH, Lee YA, Kim MJ, Lee YJ.
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Phenotypic characterization of ENPP1 deficiency: generalized arterial calcification of infancy and autosomal recessive hypophosphatemic rickets type 2.
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Autosomal recessive hypophosphatemic rickets type 2; a novel mutation in the ENPP1 gene.
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