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J. Thromb. Haemost. · May 2017
Review Case ReportsGenetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.
- A Casini, T Brungs, C Lavenu-Bombled, R Vilar, M Neerman-Arbez, and P de Moerloose.
- Division of Angiology and Haemostasis, Faculty of Medicine, University Hospitals of Geneva, Geneva, Switzerland.
- J. Thromb. Haemost. 2017 May 1; 15 (5): 876-888.
AbstractEssentials Hypodysfibrinogenemia is rarely reported among the congenital fibrinogen disorders. This first systematic literature review led to identification of 51 hypodysfibrinogenemic cases. Diagnosis based only on functional/antigenic fibrinogen ratio may be insufficient. Family studies show an incomplete segregation of mutation with the clinical phenotypes.© 2017 International Society on Thrombosis and Haemostasis.
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