Positive response to imatinib in PDGFRB-related Kosaki overgrowth syndrome

Am J Med Genet A. 2021 Aug;185(8):2597-2601. doi: 10.1002/ajmg.a.62264. Epub 2021 May 12.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Disease Management
  • Genetic Association Studies* / methods
  • Genetic Predisposition to Disease*
  • Genetic Variation*
  • Humans
  • Imatinib Mesylate / administration & dosage
  • Imatinib Mesylate / therapeutic use*
  • Male
  • Phenotype*
  • Receptor, Platelet-Derived Growth Factor beta / antagonists & inhibitors
  • Receptor, Platelet-Derived Growth Factor beta / genetics*
  • Syndrome
  • Treatment Outcome

Substances

  • Imatinib Mesylate
  • PDGFRB protein, human
  • Receptor, Platelet-Derived Growth Factor beta