For example, RASopathies, such asNoonan syndrome, Neurofibromatosis 1 and Leopard syndrome, are a subtype ofdevelopmental diseases characterized by mutations in genes encoding for components ofthe Ras/MAPK pathway (NF1, PTPN1, SOS1, RAF1,KRAS, NRAS, SHOC2, CBL) [24, 25]. The gene discussed is SOS1; the disease is glycogen storage disease VI.