Bile duct anomalies in a male child with Noonan syndrome: a case for ras and notch pathway synergism

Am J Med Genet A. 2008 Jan 15;146A(2):261-3. doi: 10.1002/ajmg.a.32110.
No abstract available

Publication types

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

MeSH terms

  • Alagille Syndrome / metabolism
  • Bile Ducts / abnormalities*
  • Child
  • DNA Mutational Analysis
  • Humans
  • Male
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / pathology
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics
  • Receptors, Notch / metabolism*
  • Signal Transduction*
  • ras Proteins / metabolism*

Substances

  • Receptors, Notch
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • ras Proteins