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

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Title		Heterozygous FGA p.Asp473Ter (fibrinogen Nieuwegein) presenting as antepartum cerebral thrombosis
Authors		Tajdar, Mercedeh Orlando, Christelle Casini, Alessandro Herpol, Margaux De Bisschop, Barbara Govaert, Paul Neerman Arbez, Marguerite 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.
Identifiers		DOI: 10.1016/j.thromres.2017.10.020 PMID: 29122299
Full text		Article (Published version) (314 Kb) - Limited access to UNIGE
Structures		Faculté de médecine / Section de médecine clinique / Département de médecine
Research groups		Recherche translationnelle : anomalies de l'hémostase et thromboses (504) Geneva Platelet Group (13) Recherche translationnelle : anomalies de l'hémostase et thromboses (504)
Citation (ISO format)		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