Pigmentary findings in neurofibromatosis type 1-like syndrome (Legius syndrome): potential diagnostic dilemmas

JAMA. 2009 Nov 18;302(19):2150-1. doi: 10.1001/jama.2009.1690.
No abstract available

Publication types

  • Editorial
  • Comment

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Cafe-au-Lait Spots / genetics*
  • Genes, Neurofibromatosis 1
  • Genetic Association Studies
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Membrane Proteins / genetics*
  • Mutation
  • Neurofibromatosis 1 / diagnosis*
  • Neurofibromatosis 1 / genetics*
  • Phenotype
  • Syndrome

Substances

  • Adaptor Proteins, Signal Transducing
  • Intracellular Signaling Peptides and Proteins
  • Membrane Proteins
  • SPRED1 protein, human