B3GLCT and popliteal pterygium syndrome: The over-representation analysis with “Reactome pathways” revealed some over-representation in terms of: fibrin clot formation; CREB phosphorylation through the activation of CaMKII; Ras activation upon Ca2+ influx through NMDA receptor; unblocking of NMDA receptors, glutamate binding and activation; defective B3GALTL causes Peters-plus syndrome (PpS); O-glycosylation of TSR domain-containing proteins; Platelet degranulation; Platelet activation, signalling and aggregation; haemostasis (Supplementary S5).