Extensive arterial tortuosity and severe aortic dilation in a newborn with an EFEMP2 mutation

Circulation. 2012 Dec 4;126(23):2764-8. doi: 10.1161/CIRCULATIONAHA.112.119883.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arteries / abnormalities
  • Extracellular Matrix Proteins / genetics*
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Joint Instability / diagnosis*
  • Joint Instability / genetics*
  • Mutation / genetics*
  • Severity of Illness Index*
  • Skin Diseases, Genetic / diagnosis*
  • Skin Diseases, Genetic / genetics*
  • Vascular Malformations / diagnosis*
  • Vascular Malformations / genetics*

Substances

  • EFEMP2 protein, human
  • Extracellular Matrix Proteins

Supplementary concepts

  • Arterial Tortuosity Syndrome