A novel PTPN11 missense mutation in a patient with LEOPARD syndrome

Br J Dermatol. 2009 Nov;161(5):1202-4. doi: 10.1111/j.1365-2133.2009.09385.x. Epub 2009 Jul 31.
No abstract available

Publication types

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

MeSH terms

  • Child
  • Exons / genetics
  • Humans
  • LEOPARD Syndrome / genetics*
  • Male
  • Mutation, Missense*
  • Polymorphism, Single Nucleotide
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11