Associated Papers
A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility.
Zhou Z et al.
Asian Journal of Andrology, 2025
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
CFAP300 mutation causing primary ciliary dyskinesia in Finland.
Schultz R et al.
Frontiers in Genetics, 2022
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
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