Paepe, A. de

patient mutation syndrome family deletion stickler aneurysm genetic osteoarthritis col 2a mutation aortic stickler syndrome copy number changes anomaly frameshift genet region codon number abnormality study sample smad 3 mutation p.gly university duplication department feature artery dissection analysis center smad 3 mutations score p.arg amplicon nonsense identi fied phenotype missense sensorineural hearing loss netherland col 2a gene change processing identi intervertebral disc degeneration group tortuosity substitution probe cleft palate shox region smad 3 gene family history splice detachment hospital addition result qpcr test atrial fi brillation stature thoracic aortic aneurysms table value thoracic arrow shox gene figure dietz hc collagen cause marfan syndrome effect vitreou tgfbr erasmu copy number change glycine