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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Detalles Bibliográficos
Autores principales: Brunod, Iole, Tosello, Barthélémy, Hassid, Sophie, Gire, Catherine, Thomachot, Laurent, Panuel, Michel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034340/
https://www.ncbi.nlm.nih.gov/pubmed/29976176
http://dx.doi.org/10.1186/s12887-018-1198-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6034340/
https://www.ncbi.nlm.nih.gov/pubmed/29976176
http://dx.doi.org/10.1186/s12887-018-1198-4

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