Pals, G.

patient mutation family aneurysm aortic syndrome deletion marfan syndrome osteoarthritis feature genet phenotype smad 3 mutation marfan anomaly dissection artery smad 3 mutations fbn 1 gene abnormality fbn 1 allele allele netherland tgfbr center study genetic thoracic aortic aneurysms intervertebral disc degeneration department tortuosity fbn 1 fi brillin haploinsuf ficiency smad 3 gene valve atrial fi brillation university thoracic brillin disorder arrow analysis ectopia lentis ficiency dietz hc haploinsuf erasmu cause probe heart malformations 10 patients intervertebral tissue result smad 3 identi fied group.bmj.com 45 patients aortic aneurysms chromosome early-onset osteoarthritis j med genet jmg.bmj.com european journal meniscal lesions snp array analysis downloaded surgery spine meniscal joint identi prolapse array 57. presence degeneration rotterdam marfanoid features