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RASopathy

The RASopathies are developmental syndromes caused by germline mutations in genes that alter the Ras subfamily and Mitogen-activated protein kinases that control signal transduction, including:

  • Capillary malformation-AV malformation syndrome
  • Autoimmune lymphoproliferative syndrome
  • Cardiofaciocutaneous syndrome CFC syndrome
  • Hereditary Gingival fibromatosis type 1
  • Neurofibromatosis type 1
  • Noonan syndrome
  • Costello syndrome, Noonan-like
  • Legius syndrome, Noonan-like
  • LEOPARD syndrome, Noonan-like