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  • Title: Factor XIII deficiency revealed by spontaneous intramedullary hemorrhage: confirmation of a severe mutation.
    Author: El Rassy E, Kourie HR, Antoun J, Chouery E, Megarbane A, Nasr F.
    Journal: Blood Coagul Fibrinolysis; 2015 Jul; 26(5):586-7. PubMed ID: 25828969.
    Abstract:
    The factor XIII deficiency is a very rare disorder. We report here two cases of congenital deficiency of factor XIII, revealed by spontaneous intra-axial hemorrhage, one of them manifested with an intramedullary hemorrhage never described in the literature before. Our two patients were cousins from two consanguineous parents. We discuss in this study the clinical presentation, the diagnosis, the treatment, and the prevention of factor XIII deficiency coagulopathy. A mutation described only once before was confirmed and correlated again with a severe clinical presentation.
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