Evidence map›Paper›PMID 42548793›Full record

ArticleFrontiers in cardiovascular medicine2026

Case Report: A rare stop-gained

Zaher Zaher, Gaser Abdelmohsen, Saud Bahaidarah, Faris Baamer, Angham Abdulrhman Abdulkareem, Abdulmajeed F Alrefaei, Muhammad Imran Naseer, Muhammad Abu-Elmagd

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

8 authors.

Zaher ZaherPaediatric Cardiology Division, Department of Paediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
Gaser AbdelmohsenPaediatric Cardiology Division, Department of Paediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
Saud BahaidarahPaediatric Cardiology Division, Department of Paediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
Faris BaamerPaediatric Cardiology Division, Department of Paediatrics, King Abdulaziz University, Jeddah, Saudi Arabia.
Angham Abdulrhman AbdulkareemDepartment of Biochemistry, Faculty of Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Abdulmajeed F AlrefaeiDepartment of Biology, Jamoum University College, Umm Al-Qura University, Makkah, Saudi Arabia.
Muhammad Imran NaseerInstitute of Genomic Medicine Sciences (IGMS), King Abdulaziz University, Jeddah, Saudi Arabia.
Muhammad Abu-ElmagdInstitute of Genomic Medicine Sciences (IGMS), King Abdulaziz University, Jeddah, Saudi Arabia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Atrioventricular septal defects (AVSDs) represent a diverse group of congenital cardiac malformations arising from abnormal development of the endocardial cushions. Although several transcription factors have been implicated in septation, the contributions of structural proteins involved in cardiomyocyte integrity remain incompletely understood. Methods and Results: We investigated an Arabian family presenting with a spectrum of AVSD phenotypes, including complete AVSD, partial AVSD, and an isolated cleft of the anterior mitral leaflet. Whole-exome sequencing identified a novel homozygous stop-gain variant in the Conclusion: This report expands the phenotypic spectrum associated with

Indexed as

atrioventricular septal defects (AVSD)MYZAPSaudi Arabiastop-gainwhole exome sequencing (WES)

Identifiers

PMID42548793
PMCPMC13429846

What Socratic 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 Socratic graph.