Associated Papers
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
Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1.
Stella J et al.
Human Mutation, 2016
Cole Disease Results from Mutations in ENPP1.
Eytan O et al.
American Journal of Human Genetics, 2013
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
Generalized arterial calcification of infancy: two siblings with prolonged survival.
Ciana G et al.
European Journal of Pediatrics, 2006
The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI).
Ruf N et al.
Human Mutation, 2005
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