Associated Papers
Empowering limited-resource countries: collaborating with expert centers for diagnosis of primary ciliary dyskinesia.
Yuksel Kalyoncu M et al.
Frontiers in Molecular Biosciences, 2025
Clinical, phenotype and genotype correlations in primary ciliary dyskinesia suspected children in Egypt.
Rizk H et al.
Frontiers in Molecular Biosciences, 2025
41078601 (PubMed )
Supplement: DataSheet1.pdf
Two Japanese Pediatric Patients With Primary Ciliary Dyskinesia Caused by Loss-of-Function Variants in the CCNO gene.
Xu Y et al.
Cureus, 2024
The First Case of a Homozygous CCNO NM 021147.4 Mutation Associated With Primary Ciliary Dyskinesia in Two Indian Siblings.
Alhalabi O et al.
Cureus, 2024
Case Report: Primary ciliary dyskinesia due to CCNO mutations: a Chinese pediatric case series and literature review.
Tong L et al.
Frontiers in Pediatrics, 2024
Generation of two hiPSC lines (MHHi016-A, MHHi016-B) from a primary ciliary dyskinesia patient carrying a homozygous 5 bp duplication (c.248_252dup (p.Gly85Cysfs*11)) in exon 1 of the CCNO gene.
Dahlmann J et al.
Stem Cell Research, 2020
Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.
Wallmeier J et al.
Nature Genetics, 2014
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