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Article Dans Une Revue BMC Pediatrics Année : 2018

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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hal-02335591 , version 1 (19-10-2023)

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Iole Brunod, Barthelemy Tosello, Sophie Hassid, Catherine Gire, Laurent Thomachot, et al.. Generalized arterial calcification of infancy with a novel ENPP1 mutation: a case report. BMC Pediatrics, 2018, 18 (1), pp.217. ⟨10.1186/s12887-018-1198-4⟩. ⟨hal-02335591⟩
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