Cobben, J.M.

patient mutation syndrome family ahi 1 mutations deletion genet aneurysm aortic feature marfan syndrome phenotype osteoarthritis netherland anomaly abnormality genetic analysis smad 3 mutation marfan allele department dissection artery study joubert syndrome center smad 3 mutations fbn 1 gene joubert disease fbn 1 allele cause / european journal disorder chromosome nphp 1 deletions tgfbr cutis gyrata thoracic aortic aneurysms intervertebral disc degeneration tortuosity growth symptom fbn 1 fi brillin identi fied haploinsuf ficiency smad 3 gene j med genet fgfr 2 mutation factor european identi gyrata journal valve ahi 1 gene tyr 375cys mutation dna analysis dutch craniosynostosi atrial fi brillation university dystrophy thoracic brillin arrow missense sequence ectopia lentis ficiency dietz hc table beare-stevenson protein haploinsuf fgfr 2 gene criteria erasmu