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Lack of CFAP54 Causes Primary Ciliary Dyskinesia in a Mouse Model and Human Patients

This study identifies compound heterozygous and missense variants in CFAP54 (a new suspected PCD-relevant gene) in two unrelated PCD patients, uses minigene assays and a CFAP54 knock-in mouse model (recapitulating PCD symptoms) to confirm variant harm, providing strong evidence that CFAP54 causes PCD and aiding PCD genetic testing.

September 29, 2025


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