Thanks to a collaboration between the Genetics and Development of Cardiac Defects team and the Cardiology department of the La Timone hospital, we have identified a family in which two non-synonymous variants in ROBO1 and GATA5 genes are associated with BAV and ascending aortic aneurysm. This article describes for the first time the association between ROBO1 and GATA5 variants in familial BAV with a potential genotype-phenotype correlation.
Our article entitled "Identification of non-synonymous variations in ROBO1 and GATA5 genes in a family with bicuspid aortic valve disease" has been selected as freel available for one month, thanks to the publisher.