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Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary Dyskinesia and Kartagener Syndrome

1 Jan 2022

Abstract excerpt

Background. Primary ciliary dyskinesia (PCD) is a clinical syndrome characterized by cilia with an abnormal structure or function. Its main clinical manifestations comprise chronic bronchitis, cough, recurrent respiratory infections, situs inversus, and male infertility. Single‐gene variants are widely assumed to be the main cause of this rare disease, and more than 40 genes have been described to be associated...

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PMID: 35795318
DOI: 10.1155/2022/7130555

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