Evidence map›Paper›PMID 41778063›Full record

ArticleFrontiers in cardiovascular medicine2026

Case Report: Deletion in the 5' untranslated region of

Emma S Singer, Janine Smith, Richard Lin, Ansley M Morrish, Sean Lal, Claire Irving, Charlene Casey, Ingrid King, Robert G Weintraub, Richard D Bagnall

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

Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
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

10 authors.

Emma S SingerBioinformatics and Molecular Genetics Group at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.
Janine SmithFaculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Richard LinFaculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Ansley M MorrishDepartment of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Sean LalFaculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Claire IrvingDepartment of Paediatrics, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Charlene CaseyDepartment of Paediatrics, The Children's Hospital at Westmead, Sydney, NSW, Australia.
Ingrid KingMurdoch Children's Research Institute, University of Melbourne, Melbourne, VIC, Australia.
Robert G WeintraubMurdoch Children's Research Institute, University of Melbourne, Melbourne, VIC, Australia.
Richard D BagnallBioinformatics and Molecular Genetics Group at Centenary Institute, The University of Sydney, Sydney, NSW, Australia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Barth syndrome is an X-linked disorder characterised by cardiomyopathy, growth abnormalities, neutropenia, and 3-methylglutaconic aciduria. It is caused by pathogenic variants in Case presentation: A male infant presented with dilated cardiomyopathy at 7 months of age and underwent cardiac transplantation at 19 months. Initial comprehensive cardiac genetic testing was indeterminate. Subsequent clinical investigations recorded a slight increase in the levels of 3-methylglutaconic acid and intermittent neutropenia, and a history of intermittent neutropenia was noted in his mother and maternal grandmother, prompting a consideration of Barth syndrome. A reanalysis of exome sequencing data identified a hemizygous 116 base pair deletion spanning the 5' untranslated region and start codon of Conclusion: We report a novel 116 bp

Indexed as

5' untranslated regionBarth syndromecardiomyopathystart lossTAFAZZIN

Identifiers

PMID41778063
PMCPMC12950784

What OpenQuestion holds

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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.