Evidence map›Paper›PMID 41159045›Full record

ArticleBiomedical reports2025

Association of Waardenburg syndrome with a new mutation in the

Juliana Zafiri, Elena Papageorgiou, Andreas Pampanos, Olympia Valla, Sotiris Sotiriou, Georgios K Papaioannou, Alexandros Psarris, Eliza Siomou, Emmanouil Manolakos

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

Article in Biomedical reports, 2025. 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. Epigenetic, Genetic, and Functional Germline Alterations ofCurrent issues in molecular biology · 2026
    Review
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

9 authors.

Juliana ZafiriAccess to Genome, Genetics Laboratory, 11528 Athens, Greece.
Elena PapageorgiouAccess to Genome, Genetics Laboratory, 11528 Athens, Greece.
Andreas PampanosDepartment of Genetics, Alexandra Regional General Hospital, 11528 Athens, Greece.
Olympia VallaDepartment of Genetics, Alexandra Regional General Hospital, 11528 Athens, Greece.
Sotiris SotiriouDepartment of Embryology, Faculty of Medicine, School of Health Sciences, University of Thessally, 41334 Larisa, Greece.
Georgios K PapaioannouThird Department of Obstetrics and Gynecology, General University Hospital 'Attikon', 12462 Athens, Greece.
Alexandros PsarrisFirst Department of Obstetrics and Gynecology, University of Athens Medical School, 11527 Athens, Greece.
Eliza SiomouAccess to Genome, Genetics Laboratory, 11528 Athens, Greece.
Emmanouil ManolakosAccess to Genome, Genetics Laboratory, 11528 Athens, Greece.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The present case report focuses on Waardenburg syndrome (WS), which occurs with a frequency of 1/40,000 and is manifested by neurosensory deafness, pigmentation deficiencies of the skin, hair and iris of the eye, and various tissue defects originating from the neural crest. WS is a genetically heterogeneous disease classified into four clinical and genetic phenotypes. In addition, it is caused by mutations in the following genes: Paired box 3 (

Indexed as

next-generation sequencingpax3 geneWaardenburg syndrome

Identifiers

PMID41159045
PMCPMC12557235

What OpenQuestion holds

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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.