Proptosis in a family with the p16 Leuc-to-Prol mutation in the PMP22 gene (CMT 1E)

Arq Neuropsiquiatr. 2013 May;71(5):332-3. doi: 10.1590/0004-282x20130031.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Charcot-Marie-Tooth Disease / genetics*
  • Cyclin-Dependent Kinase Inhibitor p16
  • Exophthalmos / genetics*
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Myelin Proteins / genetics*
  • Neoplasm Proteins / genetics*

Substances

  • CDKN2A protein, human
  • Cyclin-Dependent Kinase Inhibitor p16
  • Myelin Proteins
  • Neoplasm Proteins
  • PMP22 protein, human