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A novel homozygous mutation of CFAP300 identified in a Chinese patient with primary ciliary dyskinesia and infertility

10 Sept 2024

Abstract excerpt

ABSTRACT: Primary ciliary dyskinesia (PCD) is a clinically rare, genetically and phenotypically heterogeneous condition characterized by chronic respiratory tract infections, male infertility, tympanitis, and laterality abnormalities. PCD is typically resulted from variants in genes encoding assembly or structural proteins that are indispensable for the movement of motile cilia. Here, we identified a novel...

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PMID: 39254424
DOI: 10.4103/aja202477

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