A novel <i>FGG</i> missense variant associated with fibrinogen storage disease in a large family from Quebec-Reference-Cited by-同舟云学术

A novel FGG missense variant associated with fibrinogen storage disease in a large family from Quebec

Published:2024-04 Issue:3 Volume:30 Page:858-861
ISSN:1351-8216
Container-title:Haemophilia
language:en
Short-container-title:Haemophilia

Author:

Pelland‐Marcotte Marie‐Claude¹²^ORCID,Avram Adelina‐Teona³,Néron Hélène³,Demers Christine³,Castilloux Julie⁴,Gauthier Julie⁵,Neerman‐Arbez Marguerite⁶⁷^ORCID,Casini Alessandro⁸⁷^ORCID,Rivard Georges‐Etienne⁹^ORCID

Affiliation:

1. Department of Paediatrics Division of Haematology Centre Mère Enfant Soleil Centre Hospitalier de l'Université de Québec Quebec City Canada

2. Centre de recherche du CHU de Québec, axe Reproduction santé de la mère et de l'enfant Québec Canada

3. Department of Hematology Centre Hospitalier de l'Université de Québec Quebec City Canada

4. Department of Pediatrics Division of Gastro‐Enterology Centre Mère Enfant Soleil Centre Hospitalier de l'Université de Québec Quebec City Canada

5. Division of Genetics Centre Hospitalier Universitaire Sainte‐Justine Montréal Canada

6. Department of Genetic Medicine and Development, University Medical School of Geneva Geneva Switzerland

7. Faculty of Medicine of Geneva Geneva Switzerland

8. Angiology and Haemostasis University Hospitals and Faculty of Medicine of Geneva Geneva Switzerland

9. Division of Hematology/Oncology Centre Hospitalier Universitaire Sainte‐Justine Montréal Canada

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/hae.15006

Reference14 articles.

1. Congenital Fibrinogen Disorders: An Update

2. Diagnosis and classification of congenital fibrinogen disorders: communication from the SSC of the ISTH

3. Hereditary Hypofibrinogenemia with Hepatic Storage

4. Hepatic and Extrahepatic Sources and Manifestations in Endoplasmic Reticulum Storage Diseases

5. Hepatocellular fibrinogen storage in familial hypofibrinogenemia