Evidence map›Paper›PMID 39807610›Full record

ArticleClinical dysmorphology2025

Greig cephalopolysyndactyly contiguous gene syndrome in a Congolese patient co-occurring with sickle cell anemia, and review of literature.

Prince Makay, Corinne Fasquelle, Gerrye Mubungu, Esther Ekolo, Aimée Mupuala, Patrick Fuanani, Ines Sonet, Benoît Charloteaux, Leonor Palmeira, Jean-Stéphane Gatot and 4 more

Abstract read
In one paragraph

Article in Clinical dysmorphology, 2025. 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

14 authors.

Prince MakayCenter for Human Genetics.
Corinne FasquelleService de Génétique Humaine, CHU de Liège, Liège, Belgium.
Gerrye MubunguCenter for Human Genetics.
Esther EkoloDepartment of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
Aimée MupualaDepartment of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, DR Congo.
Patrick FuananiCenter for Human Genetics.
Ines SonetService de Génétique Humaine, CHU de Liège, Liège, Belgium.
Benoît CharloteauxService de Génétique Humaine, CHU de Liège, Liège, Belgium.
Leonor PalmeiraService de Génétique Humaine, CHU de Liège, Liège, Belgium.
Jean-Stéphane GatotService de Génétique Humaine, CHU de Liège, Liège, Belgium.
Prosper Lukusa TshiloboCenter for Human Genetics.
Vincent BoursService de Génétique Humaine, CHU de Liège, Liège, Belgium.
Koenraad DevriendtCenter for Human Genetics, University Hospitals, University of Leuven, Leuven.
Aimé LumakaCenter for Human Genetics.

Funding

African Rare Diseases Initiative (ARDI): Advancing Genomic Medicine through rare diseases research in AfricaR01HG012284 · NHGRI · CENTRE DE GENETIQUE HUMAINE · PI AIME LUMAKA ZOLA · 2023 to 2026
$2.5M
Deciphering Developmental Disorders in Africa (DDD-Africa) - Evaluating Clinical Exome Sequencing in an African SettingU01MH115483 · NIMH · WITS HEALTH CONSORTIUM (PTY), LTD · PI LOMBARD, ZANE · 2017 to 2021
$1.3M
Advancing discovery for developmental disorders - expanded analysis of the DDD-Africa resourceU01HD114537 · NICHD · WITS HEALTH CONSORTIUM (PTY), LTD · PI LOMBARD, ZANE · 2023 to 2025
$747k
NHGRI NIH HHS R01 HG012284NICHD NIH HHS U01 HD114537NIMH NIH HHS U01 MH115483
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Central AfricadysmorphismGLI3Greig cephalopolysyndactyly contiguous gene syndromesickle cell anemia

Identifiers

PMID39807610
PMCPMC12149334

What OpenQuestion holds

Textmetadata
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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.