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Article

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

BMC pediatrics - 5 Jul 2018

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

Abstract excerpt

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 mutation of the ENPP1 gene and the clinical outcome after biphosphonates therapy. CASE PRESENTATION: The clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29976176
DOI: 10.1186/s12887-018-1198-4
PMCID: PMC6034340

Genes

ENPP1

Variants

Provenance

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