Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation

Am J Hum Genet. 1999 Sep;65(3):917-21. doi: 10.1086/302545.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Cardiovascular Abnormalities / genetics*
  • Child
  • Exons / genetics
  • Female
  • Fibrillin-1
  • Fibrillins
  • France
  • Germ-Line Mutation / genetics*
  • Humans
  • Male
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mosaicism / genetics*
  • Musculoskeletal Abnormalities / genetics*
  • Nuclear Family
  • Phenotype
  • Polymorphism, Single-Stranded Conformational

Substances

  • FBN1 protein, human
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins