Article
Identification of genetic variants in the FGB gene associated with congenital hypofibrinogenemia with divergent clinical phenotype.
Annals of hematology - 17 Jun 2026
Belakova Kristina Maria, Asselta Rosanna, Caccia Sonia, Kolkova Zuzana, Loderer Dusan, Drotarova Miroslava, Brunclikova Monika, Agouba Sohaib Mukhtar, Gemelova Veronika Voskova, Stasko Jan, Mikler Jan, Simurda Tomas
Abstract excerpt
Congenital fibrinogen disorders are rare and clinically heterogeneous conditions that may manifest with both bleeding and thrombotic complications. The relationship between genotype and phenotype remains incompletely understood, particularly in cases involving co-inherited variants with potentially opposing functional effects. We investigated two families with hypofibrinogenemia using coagulation assays,...
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