Them most studied mutation leading to<unk>  syndrome involves the N-SH2 domain of the SHP-2 protein involved in signal transduction as part of the RAS-MAP Kinase pathway. This mutation allows SHP-2 to become constitutively activated leading to an increase in downstream signaling and disruption of embryogenesis.
Noonan syndrome pathophysiology
Leopard syndrome pathophysiology
Boerhaave syndrome pathophysiology
Ogilvie syndrome pathophysiology
Brugada syndrome pathophysiology
Evans syndrome pathophysiology
Pott's disease pathophysiology
Sezary syndrome pathophysiology