A new frameshift mutation in a patient with neurofibromatosis type I

Eur J Dermatol. 2023 Dec 1;33(6):697-699. doi: 10.1684/ejd.2023.4580.
No abstract available

MeSH terms

  • Frameshift Mutation
  • Genes, Neurofibromatosis 1
  • Humans
  • Mutation
  • Neurofibromatosis 1* / complications
  • Neurofibromatosis 1* / genetics
  • Neurofibromin 1 / genetics
  • Pedigree

Substances

  • Neurofibromin 1