Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report
Résumé
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 familial mutation of the ENPP1 gene and the clinical outcome after biphosphonates therapy.
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Licence : CC BY - Paternité
Licence : CC BY - Paternité