No mutation in RAS-MAPK pathway genes in 30 patients with Kabuki syndrome

Am J Med Genet A. 2008 Jul 15;146A(14):1893-6. doi: 10.1002/ajmg.a.32382.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Substitution
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis
  • Female
  • Genes, ras*
  • Humans
  • Intellectual Disability / genetics*
  • MAP Kinase Signaling System / genetics*
  • Male
  • Mutation*
  • Point Mutation
  • Syndrome