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

Tajdar, Mercedeh
Orlando, Christelle
Herpol, Margaux
De Bisschop, Barbara
Govaert, Paul
Jochmans, Kristin
Published in Thrombosis research. 2017
Abstract The propositus - a two-week-old boy - was transferred to our university hospital for investigation of increased head circumference and full fontanel. On ultrasound, thrombosis of the right internal cerebral vein and intraventricular haemorrhage was diagnosed, confirmed by MRI. Family history revealed a bleeding history in the mother. A haemostatic work-up in both mother and child was performed in order to rule out congenital coagulopathy.
PMID: 29122299
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Research groups Geneva Platelet Group (13)
Recherche translationnelle : anomalies de l'hémostase et thromboses (504)
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TAJDAR, Mercedeh et al. Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis. In: Thrombosis Research, 2017. doi: 10.1016/j.thromres.2017.10.020 https://archive-ouverte.unige.ch/unige:100661

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Deposited on : 2017-12-20

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