Article
Comparison of clinical phenotype with genetic and laboratory results in 31 patients with congenital dysfibrinogenemia in northern Slovakia.
International journal of hematology - 1 Jun 2020
Simurda Tomas, Zolkova Jana, Kolkova Zuzana, Loderer Dusan, Dobrotova Miroslava, Skornova Ingrid, Brunclíkova Monika, Grendar Marian, Lasabova Zora, Stasko Jan, Kubisz Peter
Abstract excerpt
Congenital dysfibrinogenemia (CD) is a rare disorder of hemostasis. The majority of cases are caused by heterozygous missense mutations in one of the three fibrinogen genes. Patients with CD may experience bleeding and thrombosis, but many are asymptomatic. To better describe the clinical, laboratory, and genotypic picture of CD, we evaluated 31 patients from seven unrelated families using standard coagulation...
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