Evidence map›Paper›PMID 41184125›Full record

ArticleZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences2025

[A family report on congenital fibrosis of extraocular muscles syndrome caused by

Min Li, Xin Qi, Yunping Li, Boding Tong

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

Article in Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences, 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

4 authors.

Min LiDepartment of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha 410011. 228212314@csu.edu.cn.
Xin QiDepartment of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha 410011.
Yunping LiDepartment of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha 410011.
Boding TongDepartment of Ophthalmology, Second Xiangya Hospital, Central South University, Changsha 410011. tbddbt22@163.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital fibrosis of extraocular muscles (CFEOM) syndrome is a genetically determined congenital disorder characterized by non-progressive ophthalmoplegia, restrictive ocular fixation, and ptosis. Its estimated incidence is approximately 1 in 230 000 to 250 000. This paper reports a family with type 3 CFEOM diagnosed at the Second Xiangya Hospital of Central South University. The proband was a 10-year-old female who presented with right esotropia and right upper eyelid ptosis. Whole-exome sequencing revealed a heterozygous c.904G>A mutation in the

Indexed as

BlepharoptosisFibrosisMutationOphthalmoplegiaTubulinChildCongenital Cranial Dysinnervation DisordersEsotropiaFemaleHumansPedigreeTUBB3 protein, humanTubulincongenital fibrosis of extraocular musclesexome sequencingptosisstrabismusTUBB3 gene

Identifiers

PMID41184125
PMCPMC12554870

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.