Article
Von Willebrand disease type 2M: Correlation between genotype and phenotype.
Journal of thrombosis and haemostasis : JTH - 1 Feb 2022
Maas Dominique P M S M, Atiq Ferdows, Blijlevens Nicole M A, Brons Paul P T, Krouwel Sandy, Laros-van Gorkom Britta A P, Leebeek Frank W G, Nieuwenhuizen Laurens, Schoormans Selene C M, Simons Annet, Meijer Daniëlle, van Heerde Waander L, Schols Saskia E M
Abstract excerpt
BACKGROUND: An appropriate clinical diagnosis of von Willebrand disease (VWD) can be challenging because of a variable bleeding pattern and laboratory phenotype. Genotyping is a powerful diagnostic tool and may have an essential role in the diagnostic field of VWD. OBJECTIVES: To unravel the clinical and laboratory heterogeneity of genetically confirmed VWD type 2M patients and to investigate their relationship....
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