Evidence map›Paper›PMID 41320952›Full record

ArticleBalkan medical journal2026

Revisiting Wiedemann-Steiner Syndrome: Novel

Zehra Manav Yiğit, Aydan Mengübaş Erbaş, Ayberk Türkyılmaz, İsmihan Merve Tekin, Elif Yılmaz Güleç, Gülsüm Kayhan, Aydeniz Aydın Gümüş, Esra Arslan Ateş, Eyyüp Üçtepe, Kübra Ateş and 13 more

Abstract readMulticenter Study
In one paragraph

Article in Balkan medical journal, 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. 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

23 authors.

Zehra Manav YiğitDepartment of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.ORCID 0000-0002-9505-0371
Aydan Mengübaş ErbaşDepartment of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.ORCID 0009-0008-1153-5621
Ayberk TürkyılmazDepartment of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye.ORCID 0000-0001-9647-8970
İsmihan Merve TekinGenoks Genetic Disease Evaluation Center, Ankara, Türkiye.ORCID 0000-0001-9487-8954
Elif Yılmaz GüleçDepartment of Medical Genetics, İstanbul Medeniyet University Faculty of Medicine, İstanbul, Türkiye.ORCID 0000-0003-0872-3898
Gülsüm KayhanDepartment of Medical Genetics, Gazi University Faculty of Medicine, Ankara, Türkiye.ORCID 0000-0002-4286-243X
Aydeniz Aydın GümüşClinic of Medical Genetics, University Health Sciences Türkiye, Başakşehir Çam and Sakura City Hospital, İstanbul, Türkiye.ORCID 0000-0002-5879-6385
Esra Arslan AteşDepartment of Medical Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye.ORCID 0000-0001-5552-8134
Eyyüp ÜçtepeAcıbadem Labgen Genetic Diagnosis Center, İstanbul, Türkiye.ORCID 0000-0002-1820-9094
Kübra AteşClinic of Medical Genetics, Sakarya Training and Research Hospital, Sakarya, Türkiye.ORCID 0000-0002-0669-8230
Elvin KazancıoğluClinic of Medical Genetics, Adıyaman Training and Research Hospital, Adıyaman, Türkiye.ORCID 0000-0002-7603-6558
Bülent UyanıkDepartment of Medical Genetics, Bezmialem Vakıf University Faculty of Medicine, İstanbul, Türkiye.ORCID 0000-0002-1714-3740
Sena ÇetinDepartment of Medical Genetics, İstanbul Medeniyet University Faculty of Medicine, İstanbul, Türkiye.ORCID 0009-0008-7631-5734
Sahra AcırDepartment of Medical Genetics, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, Türkiye.ORCID 0009-0007-8251-9277
Elif SobuDepartment of Pediatric Endocrinology, Üsküdar University Faculty of Medicine, İstanbul, Türkiye.ORCID 0000-0002-2037-7046
İbrahim KamerZatay Health Pediatric Neurology Clinic, İstanbul, Türkiye.ORCID 0000-0001-9713-626X
Ahmet YeşilyurtAcıbadem Labgen Genetic Diagnosis Center, İstanbul, Türkiye.ORCID 0000-0003-1289-7833
Alperhan ÇebiDepartment of Medical Genetics, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye.ORCID 0000-0001-7388-874X
Ahmet AnıkDepartment of Pediatric Endocrinology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.ORCID 0000-0002-7729-7872
Müge AyanoğluDepartment of Pediatric Neurology, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.ORCID 0000-0002-0556-1435
Gül Ünsel BolatDepartment of Child and Adolescent Psychiatry, Balıkesir University Faculty of Medicine, Balıkesir, Türkiye.ORCID 0000-0002-4574-421X
Gökay BozkurtDepartment of Medical Genetics, Aydın Adnan Menderes University Faculty of Medicine, Aydın, Türkiye.ORCID 0000-0002-6963-3186
Hilmi BolatDepartment of Medical Genetics, Balıkesir University Faculty of Medicine, Balıkesir, Türkiye.ORCID 0000-0001-6574-8149

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Wiedemann-Steiner syndrome (WDSTS) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous pathogenic variants in Aims: To characterize the molecular and phenotypic spectrum of Turkish patients with WDSTS and compare these findings with previously published cohorts. Study Design: Multicenter retrospective cohort study. Methods: Sixteen individuals from 15 unrelated families were recruited across Türkiye. Clinical information was obtained through medical records and systematic phenotyping. Molecular analyses included next-generation sequencing or targeted variant testing, and the variants were classified according to the American College of Medical Genetics and Genomics guidelines. Results: Fifteen distinct Conclusion: This report presents the largest Turkish WDSTS cohort to date, expands the known

Indexed as

Growth DisordersHistone-Lysine N-MethyltransferaseIntellectual DisabilityMyeloid-Lymphoid Leukemia ProteinAbnormalities, MultipleAdolescentAdultChildChild, PreschoolCohort StudiesContractureFaciesFemaleHumansInfantMaleHistone-Lysine N-MethyltransferaseKMT2A protein, humanMyeloid-Lymphoid Leukemia Protein

Identifiers

PMID41320952
PMCPMC12862164

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.