PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience

J Med Genet. 2004 Nov;41(11):e117. doi: 10.1136/jmg.2004.021451.
No abstract available

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • DNA Mutational Analysis
  • Female
  • France
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • LEOPARD Syndrome / diagnosis
  • LEOPARD Syndrome / genetics*
  • LEOPARD Syndrome / pathology
  • Male
  • Molecular Sequence Data
  • Mutation*
  • 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 11
  • Protein Tyrosine Phosphatases

Associated data

  • RefSeq/NM_002834
  • RefSeq/NT_009775