Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene

Am J Med Genet A. 2010 Sep;152A(9):2409-12. doi: 10.1002/ajmg.a.33406.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Autopsy
  • Central Nervous System / abnormalities*
  • DNA Mutational Analysis
  • Fatal Outcome
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Infant
  • Male
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mutation*

Substances

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