Hilhorst-Hofstee, Y.

patient mutation syndrome deletion family hair roots genet genetic aneurysm x syndrome aortic stickler feature marfan syndrome osteoarthritis col 2a mutation phenotype analysis stickler syndrome anomaly frameshift study department codon university abnormality smad 3 mutation p.gly marfan expression netherland dissection artery allele center x patients result smad 3 mutations score fbn 1 gene p.arg fmrp expression nonsense identi fied fbn 1 allele individual figure missense group sensorineural hearing loss col 2a gene tgfbr processing identi intervertebral disc degeneration thoracic aortic aneurysms tortuosity substitution cleft palate haploinsuf ficiency fbn 1 european journal fi brillin cause blood smad 3 gene palate control family history splice journal detachment european hospital valve tissue atrial fi brillation antibody test antibody thoracic