No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome

Am J Med Genet A. 2006 Apr 15;140(8):903-5. doi: 10.1002/ajmg.a.31168.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics
  • DNA Mutational Analysis
  • Facies*
  • Humans
  • Protein Serine-Threonine Kinases / genetics*
  • Protein Serine-Threonine Kinases / physiology
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptor, Transforming Growth Factor-beta Type II
  • Receptors, Transforming Growth Factor beta / genetics*
  • Receptors, Transforming Growth Factor beta / physiology
  • Signal Transduction / genetics*
  • Signal Transduction / physiology
  • Syndrome

Substances

  • Receptors, Transforming Growth Factor beta
  • Protein Serine-Threonine Kinases
  • Receptor, Transforming Growth Factor-beta Type I
  • Receptor, Transforming Growth Factor-beta Type II
  • TGFBR1 protein, human