Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes

J Med Genet. 2003 Sep;40(9):704-8. doi: 10.1136/jmg.40.9.704.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Developmental Disabilities / pathology
  • Family Health
  • Female
  • Genotype
  • Growth Disorders / pathology
  • Heart Defects, Congenital / pathology*
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins
  • Lentigo / pathology
  • Male
  • Mutation
  • Noonan Syndrome / genetics*
  • Noonan Syndrome / pathology
  • Pedigree
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Protein Tyrosine Phosphatases / genetics*
  • Syndrome

Substances

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

Associated data

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