Evidence map›Paper›PMID 37063667›Full record

ArticleFrontiers in pediatrics2023

Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to

Li-Juan Chen, Zhong-Min You, Wen-Hong Chen, Si Yang, Chun-Chen Feng, Hai-Yong Wang, Ting Wang, Yuan-Yuan Zhu

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

Article in Frontiers in pediatrics, 2023. 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
2.2field-weighted citation impact, top 12% 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. Review
  2. 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

8 authors.

Li-Juan ChenDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
Zhong-Min YouDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
Wen-Hong ChenDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
Si YangDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
Chun-Chen FengDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
Hai-Yong WangDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
Ting WangDepartment of Pediatric Neurology, Maternal and Child Health Hospital of Hubei Province, Wuhan, China.
Yuan-Yuan ZhuDepartment of Marketing, Aegicare (Shenzhen) Technology Co., Ltd., Shenzhen, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Helsmoortel-van der Aa syndrome, also known as Methods: In our study, a 4-year-old female Chinese patient was reported with delayed psychomotor development, language impairment, ataxia, anxiety, aggressive behavior, and congenital heart defect. Trio whole exome sequencing and copy number variation sequencing were performed. Results: A novel Conclusion: Our report indicated that c.568C > T (p.Gln190Ter) in

Indexed as

ADNPautism spectrum disordercase reportdevelopmental delayHelsmoortel–van der Aa syndrome

Identifiers

PMID37063667
PMCPMC10097981
OpenAlexW4361280908

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.