Evidence map›Paper›PMID 38253421›Full record

ArticleLife science alliance2024

Single variant, yet "double trouble": TSC and KBG syndrome because of a large de novo inversion.

Victoria Rodrigues Alves Barbosa, Tatiana Maroilley, Catherine Diao, Leslie Colvin-James, Renee Perrier, Maja Tarailo-Graovac

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Life science alliance, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 99% of its field
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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. NovelSultan Qaboos University medical journal · 2026
    Article
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

6 authors at 1 institution in 1 country.

Victoria Rodrigues Alves BarbosaDepartment of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Tatiana MaroilleyDepartment of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Catherine DiaoDepartment of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Leslie Colvin-JamesDepartment of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada.
Renee PerrierDepartment of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, Canada renee.perrier@albertahealthservices.ca.ORCID https://orcid.org/0000-0001-9265-4885
Maja Tarailo-GraovacDepartment of Biochemistry and Molecular Biology, Cumming School of Medicine, University of Calgary, Calgary, Canada maja.tarailograovac@ucalgary.ca.ORCID https://orcid.org/0000-0002-4472-8584
University of Calgary · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite the advances in high-throughput sequencing, many rare disease patients remain undiagnosed. In particular, the patients with well-defined clinical phenotypes and established clinical diagnosis, yet missing or partial genetic diagnosis, may hold a clue to more complex genetic mechanisms of a disease that could be missed by available clinical tests. Here, we report a patient with a clinical diagnosis of Tuberous sclerosis, combined with unusual secondary features, but negative clinical tests including

Indexed as

Abnormalities, MultipleBone Diseases, DevelopmentalIntellectual DisabilityTooth AbnormalitiesFaciesHumans

Identifiers

PMID38253421
PMCPMC10803213
OpenAlexW4391100690

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.