CO-45 | BRIDGING THE CLINICAL CHASM: GENETIC ANALYSIS AS A CONFIRMATORY TOOL IN MISMATCHED GLANZMANN THROMBASTHENIA
Background and Aims. Glanzmann thrombasthenia (GT) is a rare inherited recessive platelet function disorder caused by quantitative or qualitative defects of the glycoprotein IIb/IIIa (GPIIbIIIa), encoded by the ITGA2B/ITGB3 genes (chromosome 17), resulting in impaired platelet aggregation. Several pathogenic variants h...