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

• Main Authors: Iole Brunod (Author), Barthélémy Tosello (Author), Sophie Hassid (Author), Catherine Gire (Author), Laurent Thomachot (Author), Michel Panuel (Author)
• Format: Book
• Published: BMC, 2018-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...