Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1

Am J Med Genet A. 2005 May 1;134(4):457-8. doi: 10.1002/ajmg.a.30582.
No abstract available

Publication types

  • Case Reports
  • Comment
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology*
  • Child, Preschool
  • Hepatic Veins / abnormalities*
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Karyotyping
  • LEOPARD Syndrome / pathology*
  • Male
  • Mutation, Missense
  • Neurofibromatosis 1 / pathology*
  • Portal Vein / abnormalities*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics

Substances

  • Intracellular Signaling Peptides and Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 1
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases