ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification
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DOI: 10.1371/journal.pgen.1010192
Abstract: 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… read more here.
Keywords: calcification; enpp1 variants; genetic heterogeneity; ectopic calcification ... See more keywords