Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis
Thrombosis Research(2018)
Abstract
•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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Key words
Dysfibrinogenemia, congenital,Fibrinogen Nieuwegein,Intracranial haemorrhage,Intracranial thrombosis,Infant, premature
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