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Scientific article
Open access
English

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.

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Keywords
  • Adult
  • Afibrinogenemia / blood
  • Afibrinogenemia / diagnosis
  • Afibrinogenemia / genetics
  • Blood Coagulation / genetics
  • Blood Coagulation Tests
  • DNA Mutational Analysis
  • Female
  • Fibrinogen / genetics
  • Genetic Markers
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Mutation, Missense
  • Phenotype
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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Identifiers
ISSN of the journal1538-7836
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Technical informations

Creation05/05/2017 12:37:00 PM
First validation05/05/2017 12:37:00 PM
Update time05/22/2024 4:08:11 PM
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