Neurofibromatosis

Adv Exp Med Biol. 2018:1085:209-211. doi: 10.1007/978-3-319-95046-4_44.

Abstract

The mode of inheritance is autosomal dominant (AD), with about 80% penetrance, but about half of cases have spontaneous mutations with no family history.

Keywords: Neurofibromatosis; Phakomatoses.

Publication types

  • Review

MeSH terms

  • Humans
  • Mutation
  • Neurofibromatosis 1 / physiopathology*
  • Penetrance