A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome

Am J Med Genet A. 2015 Sep;167A(9):2223-5. doi: 10.1002/ajmg.a.37135. Epub 2015 Apr 25.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • Female
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Infant
  • Membrane Proteins / genetics*
  • Mutation / genetics*
  • Nevus, Sebaceous of Jadassohn / genetics*

Substances

  • Membrane Proteins
  • GTP Phosphohydrolases
  • NRAS protein, human