Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

Clin Genet. 2012 Jun;81(6):595-7. doi: 10.1111/j.1399-0004.2011.01764.x. Epub 2011 Dec 28.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Chromosomal Proteins, Non-Histone / genetics
  • DNA-Binding Proteins / genetics
  • Female
  • Germ-Line Mutation*
  • Humans
  • Neurilemmoma / genetics*
  • Neurofibromin 2 / genetics
  • Phenotype
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins p21(ras)
  • SMARCB1 Protein
  • Transcription Factors / genetics
  • Young Adult
  • ras Proteins / genetics*

Substances

  • Chromosomal Proteins, Non-Histone
  • DNA-Binding Proteins
  • KRAS protein, human
  • Neurofibromin 2
  • Proto-Oncogene Proteins
  • SMARCB1 Protein
  • SMARCB1 protein, human
  • Transcription Factors
  • Proto-Oncogene Proteins p21(ras)
  • ras Proteins