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References (8)
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Generalized arterial calcification of infancy and pseudoxanthoma elasticum: two sides of the same coinFrontiers in Genetics, 3
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Mutations in the ABCC6 Gene as a Cause of Generalized Arterial Calcification of Infancy – Genotypic Overlap with Pseudoxanthoma ElasticumThe Journal of investigative dermatology, 134
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Generalized arterial calcification of infancyDefinitions
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- Publisher
- SAGE
- Copyright
- © The Author(s) 2022
- ISSN
- 2150-1351
- eISSN
- 2150-136X
- DOI
- 10.1177/21501351221129188
- Publisher site
- See Article on Publisher Site
Abstract
We report a case of massive ascending aortic dilatation in a patient with generalized arterial calcification of infancy (GACI). He was found to carry compound heterozygous mutations in ABCC6 gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both entities.
Journal
World Journal for Pediatric and Congenital Heart Surgery – SAGE
Published: Jan 1, 2023