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Article

ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

PLoS genetics - 1 Apr 2022

Ralph Douglas, Nitschke Yvonne, Levine Michael A, Caffet Matthew, Wurst Tamara, Saeidian Amir Hossein, Youssefian Leila, Vahidnezhad Hassan, Terry Sharon F, Rutsch Frank, Uitto Jouni, Li Qiaoli

Abstract excerpt

Pseudoxanthoma elasticum (PXE) and generalized arterial calcification of infancy (GACI) are clinically distinct genetic entities of ectopic calcification associated with differentially reduced circulating levels of inorganic pyrophosphate (PPi), a potent endogenous inhibitor of calcification. Variants in ENPP1, the gene mutated in GACI, have not been associated with classic PXE. Here we report the clinical,...

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Identifiers

PMID: 35482848
DOI: 10.1371/journal.pgen.1010192
PMCID: PMC9089899

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ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.PMID 35482848Read ↗

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