Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Human Genetics"
DOI: 10.1038/jhg.2017.32
Abstract: Marfan syndrome is an autosomal dominant disorder affecting mainly the skeletal, ocular and cardiovascular systems. Most cases are caused by mutations in the fibrillin-1 gene (FBN1), although there are some reports on deletions involving FBN1… read more here.
Keywords: dilated aortic; deletion; mildly dilated; aortic sinus ... See more keywords
Novel approach to engage left main coronary artery in aneurysmally dilated aortic root
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-239804
Abstract: Aneurysmally dilated aortic route pose a considerable challenge in invasive coronary angiography (CAG) using routine workhorse catheters. Often one has to resort to either CT CAG which is not possible in all cases or use… read more here.
Keywords: dilated aortic; left main; novel approach; aortic root ... See more keywords