Evidence map›Paper›PMID 41409308›Full record

ArticleMolecular syndromology2026

Two Unrelated Witteveen-Kolk Syndrome Patients Presenting with Unusual Clinical Features: Dual Diagnosis and Atypical Rare Manifestation.

Mustafa Yilmaz, Ayse Ozden, Hakan Doneray, Oguzhan Bahadır, Tuna Apuhan, Ayberk Turkyilmaz

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

Article in Molecular syndromology, 2026. 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

6 authors.

Mustafa YilmazDepartment of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Türkiye.
Ayse OzdenDepartment of Pediatric Endocrinology, Faculty of Medicine, Atatürk University, Erzurum, Türkiye.
Hakan DonerayDepartment of Pediatric Endocrinology, Faculty of Medicine, Atatürk University, Erzurum, Türkiye.
Oguzhan BahadırDiagnoSeq Genetics Diseases Evaluation Center, Ankara, Türkiye.
Tuna ApuhanDepartment of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Türkiye.
Ayberk TurkyilmazDepartment of Medical Genetics, Faculty of Medicine, Karadeniz Technical University, Trabzon, Türkiye.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Witteveen-Kolk syndrome (WITKOS, OMIM 613406) is a rare autosomal dominant neurodevelopmental disorder caused by heterozygous loss-of-function variants in the Case Presentation: This study presents 2 cases: patient 1 had genomic variations caused by a multilocus disease, including pathogenic variations in the Conclusions: These findings expand the phenotypic spectrum associated with

Indexed as

Hypogonadotropic hypogonadismMosaic uniparental disomyMultilocus disease-causing genomic variationSIN3AWitteveen-Kolk syndrome

Identifiers

PMID41409308
PMCPMC12707922

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Registered trials

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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.