Congenital Dysfibrinogenaemia: A Family Case Report
Published on: 3rd December, 2024
Congenital fibrinogen qualitative disorders, including dysfibrinogenemia and hypo-dysfibrinogenaemia, are highly heterogeneous, both in clinical manifestation and for the mutational molecular spectrum driving these disorders. Correlations between phenotype and genotype remain poorly defined. Considerable work lies ahead in order to achieve diagnostic and prognostic precision and subsequently provide targeted management for this rare disease. Here we report the laboratory test, the clinical and molecular characterisation of a family with dysfibrinogenemia.
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