Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Musfee FI, Guo D, Pinard AC, Hostetler EM, Blue EE, Nickerson DA, Bamshad MJ, Milewicz DM, Prakash SK. Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease. Mol Genet Genomic Med. 2020 10; 8(10):e1406.