Germ-line NF2 mutations and disease severity in neurofibromatosis type 2 patients with retinal abnormalities

Am J Hum Genet. 1999 Apr;64(4):1230-3. doi: 10.1086/302338.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Exons / genetics
  • Genes, Neurofibromatosis 2*
  • Genetic Variation / genetics
  • Genotype
  • Germ-Line Mutation / genetics*
  • Hamartoma / genetics
  • Hamartoma / pathology
  • Hamartoma / physiopathology
  • Humans
  • Male
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / pathology
  • Neurofibromatosis 2 / physiopathology*
  • Phenotype
  • Retina / abnormalities*
  • Retina / pathology
  • Retina / physiopathology