Evidence map›Paper›PMID 41062319›Full record

ArticleInternal medicine (Tokyo, Japan)2026

Primary Ciliary Dyskinesia Caused by a Heterozygous Large Deletion in DNAAF11 Accompanied by a Hemizygous Nonsense Variant: A Case Report from Japan.

Masashi Ito, Kozo Morimoto, Hiroshi Nakahama, Akiko Miyabayashi, Keiko Wakabayashi, Minako Hijikata, Naoto Keicho

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

Article in Internal medicine (Tokyo, Japan), 2026. 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

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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

7 authors.

Masashi ItoRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Kozo MorimotoRespiratory Disease Center, Fukujuji Hospital, Japan Anti-Tuberculosis Association, Japan.
Hiroshi NakahamaDepartment of Respiratory Medicine, Respiratory Center, Toranomon Hospital, Japan.
Akiko MiyabayashiDepartment of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Keiko WakabayashiDepartment of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Minako HijikataDepartment of Pathophysiology and Host Defense, the Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.
Naoto KeichoThe Research Institute of Tuberculosis, Japan Anti-Tuberculosis Association, Japan.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We herein report a 46-year-old patient with primary ciliary dyskinesia (PCD) caused by a large deletion spanning exons 5-11 of DNAAF11 accompanied by a hemizygous nonsense variant. The PICADAR score was 14, which was based on the presence of heterotaxy, congenital heart disease, history of neonatal respiratory distress, history of neonatal intensive care unit admission, chronic sinusitis, and otitis media. In addition, the patient's nasal nitric oxide level was markedly low at 30.7 nL/min. These findings suggest that the clinical features of DNAAF11-related PCD are typical of PCD.

Indexed as

Codon, NonsenseKartagener SyndromeSequence DeletionFemaleHeterozygoteHumansJapanMaleMiddle AgedCodon, Nonsensebronchiectasiscongenital heart diseaseheterotaxylong-read sequencingLRRC6situs ambiguus

Identifiers

PMID41062319
PMCPMC13222705

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.