FBN2 mutation associated with manifestations of Marfan syndrome and congenital contractural arachnodactyly

J Med Genet. 2004 May;41(5):e56. doi: 10.1136/jmg.2003.012880.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Disease Progression
  • Female
  • Fibrillin-2
  • Fibrillins
  • Humans
  • Marfan Syndrome / diagnosis*
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / metabolism
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism
  • Mutation*
  • RNA Splicing

Substances

  • FBN2 protein, human
  • Fibrillin-2
  • Fibrillins
  • Microfilament Proteins

Associated data

  • OMIM/121050
  • OMIM/154700