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GENATLAS PHENOTYPE
last update : 28-03-2013
Symbol TAA
Location 15q21.1
Name thoracic aortic aneurysm
Other name(s)
  • annuloaortic ectasia
  • aortic dissection, familial
  • Corresponding gene FBN1
    Main clinical features
  • thoracic aortic aneurysm and aortic dissection,
  • associated or not to patent ductus arteriosus
  • Genetic determination autosomal dominant
    Function/system disorder cardiovascular
    Type disease
    Gene product
    Name fibrillin 1 (FBN1)
    Remark(s)