Evidence map›Paper›PMID 39156004›Full record

ArticleCase reports in genetics2024

Two Pediatric Cases of Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in Oral-Facial-Digital Syndrome Gene,

Yifei Xu, Yuki Tsurinaga, Tsubasa Matsumoto, Ryuji Muta, Taichi Yano, Hiroshi Sakaida, Sawako Masuda, Koki Ueda, Guofei Feng, Shimpei Gotoh and 6 more

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

Article in Case reports in genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Review
  2. A Novel Pathogenic Splicing Mutation ofPharmacogenomics and personalized medicine · 2025
    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

16 authors.

Yifei XuDepartment of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.ORCID https://orcid.org/0000-0002-0373-6772
Yuki TsurinagaDepartment of Pediatrics Osaka Habikino Medical Center, Osaka, Japan.
Tsubasa MatsumotoDepartment of Pediatric Infection and Immunology Fukuoka Children's Hospital, Fukuoka, Japan.
Ryuji MutaDepartment of Allergy and Respiratory Medicine Fukuoka Children's Hospital, Fukuoka, Japan.
Taichi YanoFaculty of Medicine Mie University, Tsu, Japan.
Hiroshi SakaidaDepartment of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
Sawako MasudaDepartment of Otorhinolaryngology National Hospital Organization Mie National Hospital, Tsu, Japan.
Koki UedaDepartment of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
Guofei FengDepartment of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.
Shimpei GotohCenter for iPS Cell Research and Application Kyoto University, Kyoto, Japan.
Satoru OgawaElectron Microscopy Research Center Mie University Graduate School of Medicine, Tsu, Japan.
Makoto IkejiriDepartment of Clinical Laboratory Mie University Hospital, Tsu, Japan.
Kaname NakataniDepartment of Medicine Iga City General Hospital, Iga, Japan.
Mizuho NagaoInstitute for Clinical Research National Hospital Organization Mie National Hospital, Tsu, Japan.
Masaki TanabeDepartment of Clinical Laboratory Mie University Hospital, Tsu, Japan.
Kazuhiko TakeuchiDepartment of Otorhinolaryngology-Head and Neck Surgery Mie University Graduate School of Medicine, Tsu, Japan.ORCID https://orcid.org/0000-0001-6855-6425

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Primary ciliary dyskinesia (PCD) is a hereditary disease caused by genes related to motile cilia. We report two male pediatric cases of PCD caused by hemizygous pathogenic variants in the OFD1 centriole and centriolar satellite protein (

Identifiers

PMID39156004
PMCPMC11329306

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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.