Loss-of-Function ENPP1 Mutations Cause Both Generalized Arterial Calcification of Infancy and Autosomal-Recessive Hypophosphatemic Rickets
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference16 articles.
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3. DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis;Lorenz-Depiereux;Nat. Genet.,2006
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5. PHEX, FGF23, DMP1 and beyond;Strom;Curr. Opin. Nephrol. Hypertens.,2008
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1. Quantitative correlation of ENPP1 pathogenic variants with disease phenotype;Bone;2024-09
2. Generalized arterial calcification of infancy due to mutations of the ENPP1 and ABCC6 genes: phenotype features, bisphosphonate therapy;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2024-07-11
3. Diagnosis, treatment, and management of rickets: a position statement from the Bone and Mineral Metabolism Group of the Italian Society of Pediatric Endocrinology and Diabetology;Frontiers in Endocrinology;2024-04-19
4. Review of childhood genetic nephrolithiasis and nephrocalcinosis;Frontiers in Genetics;2024-03-28
5. Natural history of ENPP1 deficiency: Nationwide Turkish Cohort Study of autosomal‐recessive hypophosphataemic rickets type 2;Clinical Endocrinology;2024-02-07
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