Evidence map›Paper›PMID 41524020›Full record

ArticleInternational journal of ophthalmology2026

Genetic analysis of Han-Chinese patients with isolated congenital ptosis.

Qian-Ling Zhang, La-Mei Yuan, Xin-Yue Deng, Wen Zheng, Jun-Hui Yi, Hong-Bo Xu, Hao Deng

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of ophthalmology, 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
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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

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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.

Qian-Ling ZhangDepartment of Laboratory Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
La-Mei YuanResearch Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Xin-Yue DengResearch Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Wen ZhengDepartment of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Jun-Hui YiDepartment of Ophthalmology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Hong-Bo XuCenter for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.
Hao DengDepartment of Laboratory Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo conduct a genetic analysis of Han-Chinese patients with isolated congenital ptosis (ICP) and identify the genetic variants related to the condition.

methodsSixty-five unrelated patients with ICP were enrolled. Comprehensive clinical examinations, whole exome sequencing (WES), and Sanger sequencing were used to reveal the potential genetic causes. Combined with public and in-house control databases, multiple bioinformatics prediction tools, and conservation analysis, the potential variants were further analyzed. AlphaFold 3, an accurate modelling prediction tool, was utilized to generate three-dimensional structural models of both wild-type and mutated proteins.

resultsThree novel heterozygous variants in the zinc finger homeobox 4 gene (

conclusionThe novel heterozygous

Indexed as

disease-causing genemissense variantsptosissusceptibility geneZFHX4

Identifiers

PMID41524020
PMCPMC12782065

What Socratic holds

Textmetadata
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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 Socratic graph.