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

• Autori principali: Iole Brunod (Autore), Barthélémy Tosello (Autore), Sophie Hassid (Autore), Catherine Gire (Autore), Laurent Thomachot (Autore), Michel Panuel (Autore)
• Natura: Libro
• Pubblicazione: BMC, 2018-07-01T00:00:00Z.
• Soggetti: article
• Accesso online: 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...