Evidence map›Paper›PMID 42074547›Full record

ArticleGenes2026

The First Case of Kleefstra Syndrome in a Rwandan Patient with Global Developmental Delay.

Norbert Dukuze, Janvier Hitayezu, Jeanne Primitive Uyisenga, Esther Uwibambe, Jean Hubert Caberg, Vinciane Dideberg, Vincent Bours, Abdullateef Isiaka Alagbonsi, Leon Mutesa, Annette Uwineza

Abstract readCase Reports
In one paragraph

Article in Genes, 2026. 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
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.

  1. 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

10 authors.

Norbert DukuzeCenter for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.
Janvier HitayezuDepartment of Pediatrics, University Teaching Hospital of Kigali (CHUK), Kigali P.O. Box 655, Rwanda.ORCID 0000-0001-5197-4559
Jeanne Primitive UyisengaDepartment of Biology, College of Science and Technology, University of Rwanda, Kigali P.O. Box 3900, Rwanda.ORCID 0000-0003-1442-4616
Esther UwibambeCenter for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.ORCID 0009-0004-2046-9495
Jean Hubert CabergCenter for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium.
Vinciane DidebergCenter for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium.
Vincent BoursCenter for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Sart Tilman, 4000 Liège, Belgium.
Abdullateef Isiaka AlagbonsiDepartment of Physiology, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, Kigali P.O. Box 3286, Rwanda.ORCID 0000-0002-5462-9950
Leon MutesaCenter for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.
Annette UwinezaCenter for Human Genetics, School of Medicine and Pharmacy, College of Medicine and Health Sciences, University of Rwanda, KG 11 Ave Gasabo, Kigali P.O. Box 3286, Rwanda.ORCID 0000-0003-1749-0395

Funding

European Union University of Rwanda Enabel-Kwigira Project, grant number RWA210001-10016.
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Craniofacial AbnormalitiesDevelopmental DisabilitiesHeart Defects, CongenitalHistone-Lysine N-MethyltransferaseIntellectual DisabilityChromosome DeletionChromosomes, Human, Pair 9Exome SequencingHumansInfantRwandaEHMT1 protein, humanHistone-Lysine N-MethyltransferaseEHMT1exome sequencingKleefstra syndromeneuro-developmental disordersRwanda

Identifiers

PMID42074547
PMCPMC13115583

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.