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Article

Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coin

1 Jan 2012

Abstract excerpt

Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 (ATP-binding cassette subfamily C number 6) are known to cause pseudoxanthoma elasticum (PXE). However, ABCC6 mutations account for a significant subset of GACI cases, and ENPP1 mutations can also be associated with PXE lesions. Based on the considerable overlap...

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PMID: 23269929
DOI: 10.3389/fgene.2012.00302

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