Evidence map›Paper›PMID 41778429›Full record

ArticleArchives of Iranian medicine2025

A Novel Mutation in

Junping Xiao, Chenyu Zhuan, Lingkong Zeng, Xuwei Tao

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

Article in Archives of Iranian medicine, 2025. 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
–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

0 citing papers in PubMed.

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.

Junping XiaoDepartment of Neonatology, Wuhan Women and Children Medical Care Center, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.ORCID 0009-0002-5677-2408
Chenyu ZhuanDepartment of Neonatology, Wuhan Women and Children Medical Care Center, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.ORCID 0009-0004-8581-400X
Lingkong ZengDepartment of Neonatology, Wuhan Women and Children Medical Care Center, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Xuwei TaoDepartment of Neonatology, Wuhan Women and Children Medical Care Center, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.ORCID 0000-0002-8178-813X

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Warburg-Cinotti syndrome (WCS) is a rare disorder caused by mutations in the DDR2 gene. We report the first neonatal case with a novel WCS variant, aiming to explore its clinical and genetic characteristics. Clinical data were collected and analyzed retrospectively, and whole exome sequencing (WES) was performed for the family. The patient exhibited significant respiratory distress due to choanal abnormalities, unlike previous reports. WES revealed a maternally inherited heterozygous missense mutation in

Indexed as

Abnormalities, MultipleDiscoidin Domain Receptor 2Mutation, MissenseExome SequencingHumansInfant, NewbornDDR2 protein, humanDiscoidin Domain Receptor 2Discoidin domainDiscoidin domain receptor 2Neonatal respiratory distressWarburg-Cinotti syndrome

Identifiers

PMID41778429
PMCPMC12958429

What OpenQuestion holds

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Registered trials

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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.