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

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 familial mutat...

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Vydáno v:BMC Pediatr
Hlavní autoři: Brunod, Iole, Tosello, Barthélémy, Hassid, Sophie, Gire, Catherine, Thomachot, Laurent, Panuel, Michel
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2018
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6034340/
https://ncbi.nlm.nih.gov/pubmed/29976176
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-018-1198-4
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