Activating mutations in PDGFRB have been associated with other human diseases, including Kosaki overgrowth syndrome, infantile myofibromatosis, fusiform aneurysms, acute lymphoblastic leukaemia and myeloproliferative neoplasms associated with eosinophilia. The gene discussed is PDGFRB; the disease is skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome.