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

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Brunod, Iole | Tosello, Barthelemy | Hassid, Sophie | Gire, Catherine | Thomachot, Laurent | Panuel, Michel

Edité par CCSD ; BioMed Central -

International audience. 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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