Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature

Zdziarska, Joanna; Wypasek, Ewa; Iwaniec, Teresa; Ferreira Vilar Da Silva, Rui Filipe; Neerman Arbez, Marguerite; Undas, Anetta

doi:10.1111/hae.14211

Scientific article

Review

Open access

English

Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature

ContributorsZdziarska, Joanna; Wypasek, Ewa; Iwaniec, Teresa; Ferreira Vilar Da Silva, Rui Filipe; Neerman Arbez, Marguerite

; Undas, Anetta

Published inHaemophilia, vol. 27, no. 1, p. 26-32

Publication date2021

Abstract

Congenital afibrinogenemia is a severe bleeding disorder, sometimes manifesting as thrombosis and/or pregnancy complications. Intracranial haemorrhage (ICH) constitutes the major cause of death in this disease.

Affiliation

Faculté de médecine / Section de médecine fondamentale / Département de médecine génétique et développement

Research group

Recherche translationnelle : anomalies de l'hémostase et thromboses (504)

Funding

Swiss National Science Foundation - 310003A_152633

Citation (ISO format)

ZDZIARSKA, Joanna et al. Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature. In: Haemophilia, 2021, vol. 27, n° 1, p. 26–32. doi: 10.1111/hae.14211

Article (Accepted version)

Identifiers

PID : unige:154138
DOI : 10.1111/hae.14211
PMID : 33245842

ISSN of the journal1351-8216

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Creation08/06/2021 2:37:00 PM

First validation08/06/2021 2:37:00 PM

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Status update03/16/2023 1:07:59 AM

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Afibrinogenemia caused by a novel homozygous missense mutation, FGB p.Cys241Tyr, in a male patient with recurrent intracranial bleeding: case report and review of literature

Congenital afibrinogenemia is a severe bleeding disorder, sometimes manifesting as thrombosis and/or pregnancy complications. Intracranial haemorrhage (ICH) constitutes the major cause of death in this disease.

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