Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Phenotype, genotype, and laboratory assessment of congenital fibrinogen disorders: Data from the Rare Bleeding disorders in the Netherlands study.

Thrombosis research - 1 May 2025

Haisma Bauke, Rijpma Sanna R, Cnossen Marjon H, den Exter Paul L, Kruis Ilmar C, Meijer Karina, Nieuwenhuizen Laurens, van Es Nick, Saes Joline L, Blijlevens Nicole M A, van Heerde Waander L, Schols Saskia E M

Abstract excerpt

INTRODUCTION: Congenital fibrinogen disorders (CFDs), encompassing quantitative (hypo-/afibrinogenemia) and qualitative (dysfibrinogenemia) defects, can result in bleeding or thrombotic events. This study aimed to enhance understanding of the clinical and genetic characteristics of CFD patients. METHODS: The Dutch cross-sectional RBiN study included 47 CFD patients (median age 38, 55 % women), categorized into...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Afibrinogenemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cross-Sectional Studies

Share to Fibrinogen

Share to Genotype

Share to Hemorrhage

Share to Netherlands

Share to Young Adult

Source

Identifiers

PMID: 40203550
DOI: 10.1016/j.thromres.2025.109317

Genes

CFD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype, genotype, and laboratory assessment of congenital fibrinogen disorders: Data from the Rare Bleeding disorders in the Netherlands study.PMID 40203550Read ↗

Congenital fibrinogen disorders: an update.Semantic proximity Read ↗

Congenital structural and functional fibrinogen disorders: a primer for internists.Semantic proximity Read ↗

Congenital Fibrinogen Deficiencies: Not So RareSemantic proximity Read ↗

Genetic Variants in the FGB and FGG Genes Mapping in the Beta and Gamma Nodules of the Fibrinogen Molecule in Congenital Quantitative Fibrinogen Disorders Associated with a Thrombotic Phenotype.Semantic proximity Read ↗

Genetic mutations associated with congenital fibrinogen disorders: global distribution and clinical outcomes.Semantic proximity Read ↗

Congenital fibrinogen disorders.Semantic proximity Read ↗

Heterogeneity of Genotype–Phenotype in Congenital Hypofibrinogenemia—A Review of Case Reports Associated with Bleeding and ThrombosisSemantic proximity Read ↗

Genetics, diagnosis and clinical features of congenital hypodysfibrinogenemia: a systematic literature review and report of a novel mutation.Semantic proximity Read ↗

Rare inherited disorders of fibrinogen.Semantic proximity Read ↗

Dysfibrinogenemia: from molecular anomalies to clinical manifestations and management.Semantic proximity Read ↗

Molecular and clinical profile of congenital fibrinogen disorders in Iran, identification of two novel mutations.Semantic proximity Read ↗

Mutations Accounting for Congenital Fibrinogen Disorders: An Update.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.