Evidence map›Paper›PMID 34421503›Full record

ArticleMolecular syndromology2021

A Novel Frameshift Variant of the

Ying Li, Yajuan Xu, Genxia Li, Kang Chen, Haiyang Yu, Jinshuang Gao, Weifang Tian, Yuehua Liu, Pingping Liu, Linlin Zhang and 1 more

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

Article in Molecular syndromology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–field-weighted citation impact, top 95% 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 synthesis or guideline pooled it, 1 citations in OpenAlex.

  1. Genetics of Waardenburg Syndrome in Africa: A Systematic Review.International journal of molecular sciences · 2025
    Pooled it
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

11 authors at 2 institutions in 2 countries.

Ying LiMolecular Genetics Laboratory, Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Yajuan XuDepartment of Obstetrics and Gynecology, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Genxia LiDepartment of Obstetrics and Gynecology, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Kang ChenDepartments of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan, USA.
Haiyang YuMolecular Genetics Laboratory, Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Jinshuang GaoMolecular Genetics Laboratory, Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Weifang TianMolecular Genetics Laboratory, Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Yuehua LiuDepartment of Obstetrics and Gynecology, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Pingping LiuDepartment of Obstetrics and Gynecology, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Linlin ZhangMolecular Genetics Laboratory, Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Zhan ZhangMolecular Genetics Laboratory, Department of Clinical Laboratory Science, The Third Affiliated Hospital of Zhengzhou University - Maternal and Child Health Hospital of Henan Province, Zhengzhou, China.
Third Affiliated Hospital of Zhengzhou University · CNNational Institutes of Health · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Waardenburg syndrome (WS) is a rare genetic disorder characterized by varying combinations of sensorineural hearing loss and abnormal pigmentation involving the hair, skin and iris. WS is classified into 4 subtypes (WS1-WS4) based on additional symptoms. WS2 is characterized by the absence of additional symptoms and is mainly attributed to variants in the microphthalmia-associated transcription factor (

Indexed as

MITFTargeted next-generation sequencingVariantWaardenburg syndrome type 2

Identifiers

PMID34421503
PMCPMC8339487
OpenAlexW3165895666

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.