Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype

Clin Genet. 2013 Oct;84(4):392-3. doi: 10.1111/cge.12073. Epub 2012 Dec 28.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Alleles
  • Female
  • Fibrillin-1
  • Fibrillins
  • Homozygote*
  • Humans
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics*
  • Microfilament Proteins / genetics*
  • Mutation, Missense*
  • Phenotype*

Substances

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