Cutaneous symptoms in a patient with cardiofaciocutaneous syndrome and increased ERK phosphorylation in skin fibroblasts

Br J Dermatol. 2010 Oct;163(4):881-4. doi: 10.1111/j.1365-2133.2010.09875.x.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adolescent
  • Craniofacial Abnormalities / diagnosis*
  • Extracellular Signal-Regulated MAP Kinases / metabolism
  • Fibroblasts / enzymology
  • Heart Defects, Congenital / diagnosis*
  • Humans
  • MAP Kinase Kinase 2 / genetics
  • Male
  • Mutation
  • Phosphorylation
  • Skin Abnormalities / diagnosis*
  • Syndrome

Substances

  • MAP2K2 protein, human
  • Extracellular Signal-Regulated MAP Kinases
  • MAP Kinase Kinase 2