ArticleCureus2022
A Novel DNAH9 Gene Mutation Causing Primary Ciliary Dyskinesia With an Unusual Association of Jejunal Atresia in a Bahraini Child.
Article in Cureus, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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.
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Who cites it
4 citing papers in PubMed, 1 synthesis or guideline pooled it, 2 citations in OpenAlex.
- Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1.Clinical genetics · 2026Pooled it
- Two Distinct Clinical Presentations of Primary Ciliary Dyskinesia (PCD): Diagnostic Utility of Whole-Exome Sequencing in a Genetically Heterogeneous Disorder.The application of clinical genetics · 2026Article
- Novel compound heterozygous mutation inMolecular medicine reports · 2025Article
- DNAH9 variants in children with post-infectious bronchiolitis/bronchitis obliterans.Orphanet journal of rare diseases · 2025Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Primary ciliary dyskinesia (PCD) is a rare autosomal recessive genetic disorder. It is caused by a defect in the action of the cilia lining multiple organs of the body, including the lungs, the sinuses, hepatobiliary and reproductive organs. In general, the estimated prevalence of this condition is one in 15,000-20,000 individuals. It is characterized by the triad of chronic sinusitis, bronchiectasis, and situs inversus, which occurs in 50% of the cases. It can be associated with other diseases too. Genetic studies can aid in confirming the diagnosis of this condition. A high degree of suspicion about PCD among pediatricians, neonatologists, otorhinolaryngologists, and pulmonologists is essential to make early referrals of patients before they develop irreversible lung damage. Hence, early diagnosis and appropriate treatment are very important. Multicenter collaborations might improve the quality of treatment and patient outcomes. Here, we discuss a case of PCD with a unique association with type IIIb jejunal atresia, and developmental delay secondary to vitamin B12 deficiency. Moreover, the patient was found to have a novel
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Registered trials
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.