Evidence map›Paper›PMID 40800195›Full record

ArticleTranslational pediatrics2025

Two novel frameshift variations in the

Mingfang Sun, Jindan Yu, Yang Liu, Haihua Lin, Lingli Chen, Youyou Luo

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

Article in Translational 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

6 authors.

Mingfang SunDepartment of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Jindan YuDepartment of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Yang LiuDepartment of Pathology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Haihua LinDepartment of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Lingli ChenDepartment of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Youyou LuoDepartment of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Variants in the Case Description: We report our experience of two patients with DEX. The first patient, a 7-year-and-4-month-old boy, initially developed recurrent oral ulcers at 6 years of age. He later experienced fever and perianal ulcers, with laboratory tests showing elevated inflammatory marker levels. Colonoscopy revealed multiple ulcers in the colon and terminal ileum. Despite exclusive enteral nutrition, there was no clinical improvement. Next-generation sequencing revealed the novel hemizygous variant c.835_836insTATACTACCAGTATACCAAAGAGGCATACTGG (p.Ala279ValfsTer103) in the Conclusions: Patients with DEX may present as nonspecific ulcers in the gastrointestinal tract and can be misinterpreted as IBD or Behçet's disease. Genetic testing plays a crucial role in achieving an accurate diagnosis in pediatric patients. The present study also expands the spectrum of

Indexed as

Behçet’s diseasecase reportdeficiency in ELF4, X-linked (DEX)ELF4 geneinflammatory bowel disease (IBD)

Identifiers

PMID40800195
PMCPMC12336876

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.