An unexpected transmission of von Willebrand disease type 3: the first case of maternal uniparental disomy 12

Von Willebrand disease (VWD) is an inherited heterogeneous bleeding disorder caused by either a quantitative and/or qualitative defect of von Willebrand factor (VWF).[1][1],[2][2] It is encoded by a gene located on chromosome 12p13.3 composed of 52 exons.[3][3] VWD type 3 involves a virtually