Evidence map›Paper›PMID 36071884›Full record

ArticleFrontiers in pediatrics2022

Case report: Heterogeneous mutations of SOX10 gene in a Chinese infant with Waardenburg syndrome type 4C.

Suli Zhang, Shuangzhu Lin, Zhenxian Liu, Wanqi Wang, Jiayi Li, Qiandui Chen, Li Yang, Cui Wang, Qiming Pang

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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 46% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

9 authors at 2 institutions in 1 country.

Suli ZhangDepartment of Neuroscience, Hainan Women and Children's Medical Center, Haikou, China.
Shuangzhu LinFirst Affiliated Hospital to Changchun University of Chinese Medicine, Changchun, China.
Zhenxian LiuFirst Affiliated Hospital to Changchun University of Chinese Medicine, Changchun, China.
Wanqi WangChangchun University of Chinese Medicine, Changchun, China.
Jiayi LiChangchun University of Chinese Medicine, Changchun, China.
Qiandui ChenChangchun University of Chinese Medicine, Changchun, China.
Li YangDepartment of Neuroscience, Hainan Women and Children's Medical Center, Haikou, China.
Cui WangDepartment of Neuroscience, Hainan Women and Children's Medical Center, Haikou, China.
Qiming PangDepartment of Neuroscience, Hainan Women and Children's Medical Center, Haikou, China.
Changchun University of Chinese Medicine · CNThe Affiliated Hospital to Changchun University of Chinese Medicine · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

A 5-month-old patient presented with grayish-blue iris bilaterally, skin and mucosal pigmentation loss, Hirschsprung's disease, full-blown growth retardation, and sensorineural deafness. The patient's whole exon gene sequencing revealed a spontaneous heterozygous code-shifting mutation in the SOX10 gene: c.803del:p.K268Sfs

Indexed as

childdeafnessHirschsprung's diseaseSOX10 geneWaardenburg syndrome type 4C

Identifiers

PMID36071884
PMCPMC9441800
OpenAlexW4292574410

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.