Emmanuel J Favaloro: When Is A ‘Subtype’ of VWD Not Really VWD?
Emmanuel J Favaloro, Lead Scientist at the Sydney Centres for Thrombosis and Haemostasis, Westmead Hospital, shared on LinkedIn about a recent article by Yoann Huguenin et al, published in Seminars in Thrombosis and Hemostasis:
”100 years of von Willebrand disease (VWD).
When is a ‘subtype’ of VWD not really VWD?
Platelet type VWD is a disorder of the platelet VWF receptor GPIb, so is not really a defect of VWF.”
Title: Second Report of A GPIbα LRR7 Variant (P.Leu194Phe) Supporting the Pathogenicity of Mutations Outside The C-Terminal Domain In Platelet-Type Von Willebrand Disease
Authors: Yoann Huguenin, Anne Ryman, Mathieu Fiore
Read the Full Article on Seminars in Thrombosis and Hemostasis
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