Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report

Abstract Background Generalized Arterial Calcification of Infancy (GACI) is a heritable ectopic mineralization disorder resulting in diffuse arterial calcifications and/or stenosis, mostly caused by mutations in the ENPP1 gene. Here we present a case report of GACI in a male infant with a new famili...

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Bibliographic Details
Main Authors: Iole Brunod, Barthélémy Tosello, Sophie Hassid, Catherine Gire, Laurent Thomachot, Michel Panuel
Format: Article
Language:English
Published: BMC 2018-07-01
Series:BMC Pediatrics
Subjects:
Online Access:http://link.springer.com/article/10.1186/s12887-018-1198-4