Evidence map›Paper›PMID 36157999›Full record

ArticleWorld journal of clinical cases2022

Novel frameshift mutation in the

Shuang-Zhu Lin, Hong-Yan Xie, Yan-Lai Qu, Wen Gao, Wan-Qi Wang, Jia-Yi Li, Xiao-Chun Feng, Chun-Quan Jin

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

Article in World journal of clinical cases, 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
–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

3 citing papers in PubMed.

  1. Article
  2. Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.European journal of human genetics : EJHG · 2025
    Review
  3. Review
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.

Shuang-Zhu LinDiagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China.
Hong-Yan XieDiagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China.
Yan-Lai QuDiagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China.
Wen GaoChangchun University of Chinese Medicine, Changchun 130000, Jilin Province, China.
Wan-Qi WangChangchun University of Chinese Medicine, Changchun 130000, Jilin Province, China.
Jia-Yi LiChangchun University of Chinese Medicine, Changchun 130000, Jilin Province, China.
Xiao-Chun FengDiagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China.
Chun-Quan JinDiagnosis and Treatment Center for Children, The First Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, Jilin Province, China. jinchunquan@126.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundXia-Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 ( CASE SUMMARY: In this case report, we diagnosed and treated a 6-mo-old girl with XGS. The primary clinical symptoms included global developmental delay, hypotonia, and mild dysmorphic features. Using high-throughput whole-exosome sequencing to sequence the patient and her parents, and the results showed a novel frameshift mutation of c.1155dupG (p.Arg386Alafs*3) in the

conclusionThis report extends the mutation spectrum of the

Indexed as

AT-Hook DNA-binding motif-containing protein 1Case reportChildrenGlobal developmental delayXia–Gibbs syndrome

Identifiers

PMID36157999
PMCPMC9353910

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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.