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

Generalized arterial calcification of infancy (GACI) is associated with biallelic mutations in ENPP1 in the majority of cases, whereas mutations in ABCC6 are known to cause pseudoxanthoma elasticum (PXE). However, ABCC6 mutations account for a significant subset of GACI cases, and ENPP1 mutations ca...

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Bibliographic Details
Main Authors: Yvonne eNitschke, Frank eRutsch
Format: Article
Language:English
Published: Frontiers Media S.A. 2012-12-01
Series:Frontiers in Genetics
Subjects:
PXE
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2012.00302/full