Cutaneous and ophthalmic signs as a clue to early diagnosis of severe neurofibromatosis type 2: report of a novel mutation that predicts this poor prognosis

Clin Exp Dermatol. 2014 Jun;39(4):557-9. doi: 10.1111/ced.12306. Epub 2014 Apr 8.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Child
  • Frameshift Mutation*
  • Genes, Neurofibromatosis 2*
  • Humans
  • Hypopigmentation / pathology*
  • Male
  • Neurofibromatosis 2 / genetics*
  • Neurofibromatosis 2 / pathology*
  • Prognosis
  • Retinal Diseases / pathology*