Associated Papers
ODAD4-Related Primary Ciliary Dyskinesia: Report of Five Cases and a Founder Variant in Quebec.
Bourassa MH et al.
Cells, 2025
41002425 (PubMed )
Supplement: cells-14-01460-s001.zip › Supplementary_Materials.pdf
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
Implementation of multigene panel NGS diagnosis in the national primary ciliary dyskinesia cohort of Cyprus: An island with a high disease prevalence.
Yiallouros PK et al.
Human Mutation, 2021
Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: First results from Turkey.
Emiralioğlu N et al.
Pediatric Pulmonology, 2020
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