Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis

Mercedeh Tajdar,Christelle Orlando,Alessandro Casini, Margaux Herpol,Barbara De Bisschop,Paul Govaert,Marguerite Neerman-Arbez,Kristin Jochmans

Thrombosis Research（2018）

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摘要

•A prenatal internal cerebral vein thrombosis causes intraventricular haemorrhage.•Congenital dysfibrinogenemia with a heterozygous mutation FGA p.Asp473Ter is reported.•Our case contrasts with asymptomatic reports of this mutation in homozygosity.

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关键词

Dysfibrinogenemia, congenital,Fibrinogen Nieuwegein,Intracranial haemorrhage,Intracranial thrombosis,Infant, premature

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