Evidence for a Pathogenic Variant in a Patient with Generalized Arterial Calcification of Infancy
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Asset Subtitle
Submitter Only - Rafael Schulman, BS; Co-Author - Jennifer Black, MS, CGC; Presenting Author - Robert Roger Lebel, MD, FACMG;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Fetal Pathology
Genetic Testing
Co-Author Jennifer Black, MS, CGC
Presenting Author Robert Roger Lebel, MD, FACMG
Submitter Only Rafael Schulman, BS
Keywords
Generalized Arterial Calcification of Infancy
GACI
ENPP1 gene
ABCC6 gene
calcification of blood vessels
aortic calcification
pericardial effusion
compound heterozygosity
pathogenic variant
variant of uncertain clinical significance

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