Evidence map›Paper›PMID 35273928›Full record

ArticleFrontiers in pediatrics2022

Case Report: A Novel

Zixuan Cao, Chunli Wang, Jing Chen, Hu Guo, Chunfeng Wu, Gang Zhang, Le Ding

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.6field-weighted citation impact, top 37% of its field
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

3 citing papers in PubMed, 7 citations in OpenAlex.

  1. Article
  2. Clinical and genetic analysis of a case of OZhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024
    Article
  3. Article
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 at 1 institution in 1 country.

Zixuan CaoDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Chunli WangNanjing Key Laboratory of Pediatrics, Children's Hospital of Nanjing Medical University, Nanjing, China.
Jing ChenDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Hu GuoDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Chunfeng WuDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Gang ZhangDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Le DingDepartment of Neurology, Children's Hospital of Nanjing Medical University, Nanjing, China.
Second Affiliated Hospital of Nanjing Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant systemic disorder characterized by global developmental delay caused by mutations in the Methods: We reported the clinical course of a Chinese boy who was diagnosed with ODLURO syndrome by the whole exome sequencing. We extracted genomic DNA of the proband and parents, gene variations were screened using whole-exome sequencing, followed by validation using direct Sanger sequencing. The effect of mRNA splicing variants were analyzed through a minigene splice assay and Results: The proband presented with recurrent seizures and developmental delay. Using genetic analysis, we identified that the proband carried a Conclusion: We verified the pathogenic effect of the

Indexed as

abnormal mRNA splicingepilepsyKMT2EO'Donnell-Luria-Rodan's syndromesplice variant

Identifiers

PMID35273928
PMCPMC8901719
OpenAlexW4213297236

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.