Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome

J Med Genet. 2004 May;41(5):e68. doi: 10.1136/jmg.2003.013466.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins
  • LEOPARD Syndrome / diagnosis*
  • LEOPARD Syndrome / genetics*
  • Male
  • Middle Aged
  • 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

  • OMIM/151100
  • OMIM/163950