Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome

J Med Genet. 2005 Feb;42(2):e11. doi: 10.1136/jmg.2004.024091.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Cherubism / diagnosis
  • Child
  • DNA Mutational Analysis
  • Female
  • Genotype
  • Giant Cells / pathology
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Male
  • Mutation, Missense
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / pathology
  • Phenotype
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*

Substances

  • Adaptor Proteins, Signal Transducing
  • Intracellular Signaling Peptides and Proteins
  • SH3BP2 protein, human
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases