A novel TGFβR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report
{{output}}
We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (... ...
