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Scientific article
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Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation

Published inJournal of thrombosis and haemostasis, vol. 15, no. 5, p. 876-888
Publication date2017
Abstract

Essentials 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.

Citation (ISO format)
CASINI, Alessandro et al. Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation. In: Journal of thrombosis and haemostasis, 2017, vol. 15, n° 5, p. 876–888. doi: 10.1111/jth.13655
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ISSN of the journal1538-7836
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