Challenges in diagnosis of von Willebrand disease in the presence of combined mutations of different genes

Haemophilia. 2019 Mar;25(2):e113-e117. doi: 10.1111/hae.13686. Epub 2019 Jan 28.

Authors

Tiago Nava^{1

2}, Evemie Dubé¹, Julie Gauthier¹, Catherine Vézina³, Arnaud Bonnefoy¹, David Lillicrap⁴, Georges-Etienne Rivard¹

Affiliations

¹ Centre d'hémostase pédiatrique et adulte du CHU Sainte-Justine, Montreal University, Montréal, Quebec, Canada.
² Division of Pediatric Hematology-Oncology, University Hospital of Geneva, Geneva, Switzerland.
³ Montreal Children's Hospital, McGill University, Montréal, Quebec, Canada.
⁴ Department of Medicine, Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.

PMID: 30690834
DOI: 10.1111/hae.13686

No abstract available

Publication types

Letter

MeSH terms

Adolescent
Aged
Child
Child, Preschool
Female
Heterozygote
Homozygote
Humans
Male
Middle Aged
Mutation*
Pedigree
Young Adult
von Willebrand Diseases / diagnosis*
von Willebrand Diseases / genetics*
von Willebrand Factor / genetics

Substances

von Willebrand Factor