Laar, I.M.B.H. van de

patient mutation aortic family syndrome aneurysm valve heart defect abnormality anomaly genet protein disease study analysis dissection artery genetic stenosi osteoarthritis feature development chapter chromosome tgf -β charge syndrome pathway dietz hc department marfan syndrome thoracic malformations aorta center cause tortuosity phenotype region smad 3 mutations netherland factor bicuspid aortic valve right expression charge rotterdam erasmu autosomal septal aortic aneurysms tgf -β pathway smad 3 mutation control thoracic aortic aneurysms laterality defects variant inheritance marfan atrial cardiol examination tissue embryo tgfbr j med genet dietz smad 3 disorder chd 7 gene atrial septal defect p.arg laterality result syndromic heart malformations heart disease notch tbx 5 linkage