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Article

Application of genetic testing for the diagnosis of von Willebrand disease.

Journal of thrombosis and haemostasis : JTH - 1 Aug 2024

Seidizadeh Omid, Baronciani Luciano, Lillicrap David, Peyvandi Flora

Abstract excerpt

von Willebrand disease (VWD) is the most frequent inherited bleeding disorder, with an estimated symptomatic prevalence of 1 per 1000 in the general population. VWD is characterized by defects in the quantity, quality, or multimeric structure of von Willebrand factor (VWF), a glycoprotein being hemostatically essential in circulation. VWD is classified into 3 principal types: low VWF/type 1 with partial...

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Identifiers

PMID: 38762018
DOI: 10.1016/j.jtha.2024.05.006
PMCID: PMC11548015

Genes

VWF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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