No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

Am J Med Genet A. 2003 Aug 15;121A(1):82-4. doi: 10.1002/ajmg.a.20122.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • DNA Mutational Analysis
  • Humans
  • Intellectual Disability / genetics
  • Intracellular Signaling Peptides and Proteins
  • Noonan Syndrome / genetics*
  • Phenotype*
  • Polymorphism, Single-Stranded Conformational
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*
  • Sequence Analysis, DNA
  • Skin Abnormalities / genetics
  • Syndrome

Substances

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

Associated data

  • OMIM/115150
  • OMIM/151100
  • OMIM/163950
  • OMIM/163955
  • OMIM/218040