Evidence map›Paper›PMID 42199197›Full record

ArticleCase reports in ophthalmology

Novel Compound Heterozygous Variants in

Yuchen Lin, Ping Yu, Sunliang Cui, Sijie Xiong, Yuan Zhou, Yuhong Chen, Jijian Lin

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

Article in Case reports in ophthalmology. 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.

Yuchen LinEye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Ping YuHangzhou Inogenes Clinical Labortory, Hangzhou, China.
Sunliang CuiCollege of Pharmaceutical Sciences, Zhejiang University, Hangzhou, China.
Sijie XiongCollege of Pharmaceutical Sciences, Zhejiang University, Hangzhou, China.
Yuan ZhouDepartment of Dermatology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Yuhong ChenDepartment of Dermatology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Jijian LinEye Center, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder caused by biallelic Case Presentation: We present an 18-year-old male with painless bilateral vision loss over 8 years and sparse scalp hair noted since 5 years of age. Multimodal imaging documented a severe maculopathy that progressed from outer retinal tubulations (ORTs) to diffuse atrophy within 2 years, accompanied by choroidal thinning and reduced choriocapillaris perfusion. The patient also exhibited the characteristic hypotrichosis. Whole exome sequencing revealed novel compound heterozygous variants in Conclusions: This case demonstrates that intronic

Indexed as

Case reportCDH3Disease progressionHypotrichosis with juvenile macular dystrophySplicing variant

Identifiers

PMID42199197
PMCPMC13200835

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.