Identification and characterization of the elusive mutation causing the historical von Willebrand Disease type IIC Miami

Unlabelled BoxEssentials•Von Willebrand disease IIC Miami features high von Willebrand factor (VWF) with reduced function.•We aimed to identify and characterize the elusive underlying mutation in the original family.•An inframe duplication of VWF exons 9–10 was identified and characterized.•The mutation causes a defect in VWF multimerization and decreased VWF clearance from the circulation.