Article
Genetic variants, thrombocytopenia, and clinical phenotype of type 2B von Willebrand disease: a median 16-year follow-up study.
Journal of thrombosis and haemostasis : JTH - 1 Dec 2024
van Kwawegen Calvin B, Atiq Ferdows, Endenburg Dara, Fijnvandraat Karin, van Galen Karin P M, Cnossen Marjon H, Schols Saskia E M, Kruip Marieke J H A, van Heerde Waander L, de Meris Joke, van der Bom Johanna G, Eikenboom Jeroen, Meijer Karina, Leebeek Frank W G
Abstract excerpt
BACKGROUND: Type 2B von Willebrand disease (VWD) is a bleeding disorder caused by gain-of-function variants in the VWF gene. The laboratory and clinical phenotype of type 2B VWD is heterogeneous. OBJECTIVES: We investigated associations between genotype and phenotype over a median of 16 years follow-up in a large cohort of well-characterized patients. METHODS: We included 64 genetically confirmed type 2B VWD...
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