Back to search

Article

New and De Novo Biallelic Variant Associated With Owren's Disease: Precision Medicine in Blooding Disorders

2024-08-26

Abstract excerpt

<title>Abstract</title> <p><bold>Introduction</bold> Autosomal recessive coagulation factor V deficiency (1)causes moderate to severe bleeding (2). Currently, 450 clinically significant variants have been identified of the 3942 described.(2) <bold>Materials and methods</bold> 10-year-old female with 3 hospitalizations for dental extraction, ileo-psoas hematoma and knee hemarthrosis. Non-consanguineous parents, wi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work
f365fa11-83f9-5ed7-9c3d-77bf3673e4e9
DOI
10.21203/rs.3.rs-4547867/v1
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
New and De Novo Biallelic Variant Associated With Owren's Disease: Precision Medicine in Blooding DisordersDOI 10.21203/rs.3.rs-4547867/v1
Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTHSemantic proximity
Hemostatic phenotypes and genetic disordersSemantic proximity
Genetic sequence analysis of inherited bleeding diseasesSemantic proximity
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databasesSemantic proximity
Landscape and Spectrum of VWF Variants in Type 2 Von Willebrand Disease: Insights from a German Patient Cohort.Semantic proximity
Diagnosis of inherited bleeding disorders in the genomic era.Semantic proximity
Targeted exome analysis in patients with rare bleeding disorders: data from the Rare Bleeding Disorders in the Netherlands studySemantic proximity
Factor 5 mutation profile in German patients with homozygous and heterozygous factor V deficiency.Semantic proximity
Genotype-phenotype correlation in a cohort of Portuguese patients comprising the entire spectrum of VWD types: impact of NGS.Semantic proximity
Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databasesSemantic proximity
Genetics of Venous Thrombosis: update in 2015.Semantic proximity
Understanding the genetic basis of rare inherited bleeding and platelet disorders : the utility of next-generation sequencingSemantic proximity
Select a neighboring publication to make it the new centre.