Associated Papers
Exome sequencing reanalysis identifies a novel likely pathogenic CFAP54 variant and expands the phenotypic and genotypic spectrum of primary ciliary dyskinesia.
Li Y et al.
Frontiers in Medicine, 2025
Lack of CFAP54 causes primary ciliary dyskinesia in a mouse model and human patients.
Zhao X et al.
Frontiers of Medicine, 2023
Select a paper to view details