FBN1 Coding Variants and Nonsyndromic Aortic Disease

Circ Genom Precis Med. 2019 Jun;12(6):e002454. doi: 10.1161/CIRCGEN.119.002454. Epub 2019 Jun 18.
No abstract available

Keywords: aneurysm; aortic aneurysm; aortic disease; genetic variation; mitral valve prolapse.

Publication types

  • Letter
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Aortic Diseases / diagnostic imaging
  • Aortic Diseases / genetics*
  • Aortic Diseases / mortality
  • Aortic Diseases / physiopathology
  • Computed Tomography Angiography
  • Databases, Genetic
  • Female
  • Fibrillin-1 / genetics*
  • Genotype
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / physiopathology
  • Phenotype

Substances

  • FBN1 protein, human
  • Fibrillin-1