Evidence map›Paper›PMID 37272175›Full record

ReviewZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2023

[Autosomal dominant mental retardation type 5 caused by

Xiao-Le Wang, Ya-Nan Tian, Chen Chen, Jing Peng

Open access · greenAbstract readReviewCase ReportsEnglish Abstract
PubMed Full text at PMC Publisher
In one paragraph

Review in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2023. 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
2.6field-weighted citation impact, top 15% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

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

4 authors at 2 institutions in 1 country.

Xiao-Le WangDepartment of Pediatrics, Xiangya Hospital of Central South University, Changsha 410008, China.
Ya-Nan Tian
Chen ChenDepartment of Pediatrics, Xiangya Hospital of Central South University, Changsha 410008, China.
Jing PengDepartment of Pediatrics, Xiangya Hospital of Central South University, Changsha 410008, China.
Xiangya Hospital Central South University · CNCentral South University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo summarize the clinical phenotype and genetic characteristics of children with autosomal dominant mental retardation type 5 caused by

methodsA retrospective analysis was performed on the medical data of 8 children with autosomal dominant mental retardation type 5 caused by

resultsThe mean age of onset was 9 months for the 8 children. All children had moderate-to-severe developmental delay (especially delayed language development), among whom 7 children also had seizures. Among these 8 children, 7 had novel heterozygous mutations (3 with frameshift mutations, 2 with nonsense mutations, and 2 with missense mutations) and 1 had 6p21.3 microdeletion. According to the literature review, there were 48 Chinese children with mental retardation caused by

conclusionsChildren with autosomal dominant mental retardation type 5 caused by

Indexed as

Intellectual DisabilityChildCodon, NonsenseHumansMutationras GTPase-Activating ProteinsRetrospective StudiesSeizuresValproic AcidCodon, Nonsenseras GTPase-Activating ProteinsSYNGAP1 protein, humanValproic AcidChildDevelopmental retardationEpilepsyMental retardationSYNGAP1 gene

Identifiers

PMID37272175
PMCPMC10247193
OpenAlexW4379376863

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.