Evidence map›Paper›PMID 40893649›Full record

ArticleResearch and practice in thrombosis and haemostasis2025

Factor XIII deficiency due to compound heterozygosity for 2

Jodie Odame, Caroline Malcolmson, Cindy Wakefield, Tammy Bourque, David Lillicrap, Orla Rawley, Mackenzie Bowman, Manuel Carcao, Vanessa Bouskill

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Research and practice in thrombosis and haemostasis, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Jodie OdameDivision of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Faculty of Medicine, Toronto, Canada.
Caroline MalcolmsonDivision of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Faculty of Medicine, Toronto, Canada.
Cindy WakefieldDivision of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Faculty of Medicine, Toronto, Canada.
Tammy BourqueSudbury Outpatient Centre, Health Sciences North, Sudbury, Canada.
David LillicrapDepartment of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario Canada.
Orla RawleyDepartment of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario Canada.
Mackenzie BowmanDepartment of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario Canada.
Manuel CarcaoDivision of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Faculty of Medicine, Toronto, Canada.
Vanessa BouskillDivision of Haematology/Oncology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Faculty of Medicine, Toronto, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Factor (F)XIII deficiency is a rare bleeding disorder. Genomic studies, adjunctive to biochemical assays, can provide valuable diagnostic and clinical clarity. Key Clinical Question: We describe a case of a child with FXIII deficiency in which genomic studies were crucial for accurate diagnosis and treatment. Clinical Approach: An 8-year-old male presented with a severe bleeding phenotype. His FXIII antigen, activity, and alpha-subunit (FXIIIA) levels were below detection limits. Genetic analysis identified 2 likely pathogenic variants in Conclusion: Family segregation studies were essential in this case for interpreting genetic analysis results and identifying the causative variants resulting in severe FXIIIA deficiency.

Indexed as

case reportFXIII deficiencyFXIII diagnosisgenetic mutational analysis

Identifiers

PMID40893649
PMCPMC12395524

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.