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 gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both entities.
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| http://dx.doi.org/10.1177/21501351221129188 | DOI Listing |
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