Evidence map›Paper›PMID 40583715›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2025

[Cohen syndrome in a child caused by compound heterozygous variants in

Xin Mei, Xiao-Liang He, Wei-Na Gao, Meng-Yao Wang, Jing-Wen Shen, Jing Wei, Yun Xue

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PubMed Full text at PMC Publisher
In one paragraph

Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 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

7 authors.

Xin MeiCollege of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, Henan 471023, China.
Xiao-Liang He
Wei-Na GaoCollege of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, Henan 471023, China.
Meng-Yao WangCollege of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, Henan 471023, China.
Jing-Wen ShenCollege of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, Henan 471023, China.
Jing Wei
Yun XueCollege of Medical Technology and Engineering, Henan University of Science and Technology, Luoyang, Henan 471023, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 7-year-old girl was admitted to the hospital with rapidly progressive vision loss. Since 1 year of age, she had exhibited developmental delay accompanied by visual impairment and neutropenia. Combined with genetic testing and molecular pathogenicity analysis, she was diagnosed with Cohen syndrome (CS) caused by compound heterozygous variants in

Indexed as

Developmental DisabilitiesGrowth DisordersIntellectual DisabilityMicrocephalyMuscle HypotoniaMyopiaObesityPsychomotor DisordersVesicular Transport ProteinsChildFemaleFingersHeterozygoteHumansRetinal DegenerationVesicular Transport ProteinsVPS13B protein, humanChildCohen syndromeGenotypePhenotypeVPS13B gene

Identifiers

PMID40583715
PMCPMC12234146

What OpenQuestion holds

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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.