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Case Report: A Novel Genetic Mutation Causes Idiopathic Infantile Arterial Calcification in Preterm Infants

23 Dec 2021

Abstract excerpt

Idiopathic infantile arterial calcification (IIAC), also known as generalized arterial calcification of infancy (GACI), is a heritable ectopic mineralization disorder that results in diffuse arterial calcifications and or stenosis, which are attributed to mutations in the ENPP1 gene. In this case study, we report the development of IIAC in a 2-month-old male preterm infant. The patient presented with severe...

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PMID: 35003211
DOI: 10.3389/fgene.2021.763916

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