Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome

Am J Med Genet A. 2004 Nov 1;130A(4):432-4. doi: 10.1002/ajmg.a.30281.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • LEOPARD Syndrome / genetics*
  • Male
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*
  • SH2 Domain-Containing Protein Tyrosine Phosphatases
  • src Homology Domains

Substances

  • Intracellular Signaling Peptides and Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases
  • SH2 Domain-Containing Protein Tyrosine Phosphatases