Evidence map›Paper›PMID 40852414›Full record

ArticleFrontiers in pediatrics2025

Analysis of clinical and genetic features in an adolescent patient with primary ciliary dyskinesia induced by homozygous mutation in the

Wanting Xu, Yan Yang, Lan Kang, Ling Guo, Jing Liu, Yan Zeng, Lei Li, Ai Chen, Rong Zhang, Wenbin Dong

Abstract readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 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

10 authors.

Wanting XuDivision of Neonatology, Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
Yan YangDivision of Neonatology, Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
Lan KangDivision of Neonatology, Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
Ling GuoPediatrics, Sichuan Clinical Research Center for Birth Defects, Luzhou, Sichuan, China.
Jing LiuPediatrics, Sichuan Clinical Research Center for Birth Defects, Luzhou, Sichuan, China.
Yan ZengPediatrics, Sichuan Clinical Research Center for Birth Defects, Luzhou, Sichuan, China.
Lei LiPediatrics, Chengdu Second People's Hospital, Chengdu, Sichuan, China.
Ai ChenPediatrics, Chengdu Second People's Hospital, Chengdu, Sichuan, China.
Rong ZhangDivision of Neonatology, Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.
Wenbin DongDivision of Neonatology, Department of Pediatrics, The Affiliated Hospital of Southwest Medical University, Luzhou, Sichuan, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder characterized by dysfunctional motile cilia, with or without detectable ultrastructural abnormalities. This study focuses on a homozygous mutation in the rare radial spoke head component 4A (

Indexed as

adolescent patientcase reporthomozygous mutationsprimary ciliary dyskinesiaRSPH4A

Identifiers

PMID40852414
PMCPMC12367482

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.