Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Dominique P M S M MaasFerdows AtiqNicole M A BlijlevensPaul P T BronsSandy KrouwelBritta A P Laros-van GorkomFrank W G LeebeekLaurens NieuwenhuizenSelene C M SchoormansAnnet SimonsDaniëlle MeijerWaander L van HeerdeSaskia E M ScholsPublished in: Journal of thrombosis and haemostasis : JTH (2021)
Genetically confirmed VWD type 2M patients have a relatively mild clinical phenotype, except for bleeding after surgery and delivery. Laboratory phenotype is variable and depends on the underlying genetic variant. Addition of genotyping to the current phenotypic characterization may improve diagnosis and classification of VWD.