Evidence map›Paper›PMID 42792886›Full record

ReviewGenes2026

A Candidate MEST Splice-Site Variant in a Patient with Silver-Russell Syndrome-like Phenotype: First Report and Literature Review.

Xiaocha Xu, Rongrong Pan, Shuai Chen, Fan Yu, Haixia Miao, Kexin Fang, Dingwen Wu, Yi Zhang, Jing Li, Xin Yang

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

Review in Genes, 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

10 authors.

Xiaocha XuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Rongrong PanDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Shuai ChenDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Fan YuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Haixia MiaoDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Kexin FangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Dingwen WuDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Yi ZhangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.
Jing LiPediatric Healthcare Department, Jiaxing Maternity and Child Health Care Hospital, Jiaxing 314000, China.
Xin YangDepartment of Genetics and Metabolism, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Children and Adolescents' Health and Disease, Hangzhou 310051, China.ORCID 0000-0003-4267-9579

Funding

Key R&D Program No. 2024C03151the National Key Research and Development Program of China Grant No. 2022YFC270340
6 · The paper itself

Abstract

Silver-Russell syndrome (SRS) is most commonly caused by epigenetic alterations at 11p15.5 or maternal uniparental disomy of chromosome 7 [upd(7)mat], though other molecular mechanisms remain unclear. While microdeletions encompassing

Indexed as

RNA Splice SitesSilver-Russell SyndromeExome SequencingHumansInfantMalePhenotypeRNA Splice Sitesgenomic imprintinggrowth restrictionMEST geneSilver–Russell syndromesplice-site variant

Identifiers

PMID42792886
PMCPMC13606233

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.