Associated Papers
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ et al.
Bone, 2024
ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
Mercurio SA et al.
Human Mutation, 2022
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D et al.
Human Mutation, 2022
Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI).
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33005041 (PubMed )
Supplement: NIHMS1634645-supplement-Table_S1.xlsx › Known_pathogenic
Structure of NPP1, an ectonucleotide pyrophosphatase/phosphodiesterase involved in tissue calcification.
Jansen S et al.
Structure (london, England : 1993), 2012
Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy.
Rutsch F et al.
Circulation. Cardiovascular Genetics, 2008
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