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Article

ENPP1 homozygous stop-loss variant causing generalized arterial calcifications of infancy: About a severe neonatal clinical case.

European journal of medical genetics - 1 Aug 2023

Grosyeux C, Jourdan L, Jellimann J-M, Grandmougin A, Bronner M, Lambert L, Bonnet C

Abstract excerpt

Generalized Arterial Calcifications of Infancy (GACI) is an extremely rare autosomal recessive genetic condition, mostly due to pathogenic variations in the ENPP1 gene (GACI1, MIM #208000, ENPP1, MIM #173335). To date 46 likely pathogenic or pathogenic distinct variations in ENPP1 have been described, including nonsense, frameshift, missense, splicing variations, and large deletions. Here we report a case of GACI...

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Identifiers

PMID: 37379879
DOI: 10.1016/j.ejmg.2023.104803

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