The diagnosis of Costello syndrome: nomenclature in Ras/MAPK pathway disorders

Am J Med Genet A. 2008 May 1;146A(9):1218-20. doi: 10.1002/ajmg.a.32273.
No abstract available

Publication types

  • Comparative Study
  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / metabolism
  • Diagnosis, Differential
  • Face / abnormalities
  • Genes, ras*
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics
  • Humans
  • MAP Kinase Signaling System*
  • Mutation
  • Phenotype
  • Skin Abnormalities / diagnosis
  • Skin Abnormalities / genetics
  • Syndrome
  • Terminology as Topic