Clinical, Genetic, Morphological and Functional Correlations in a Large Series of Patients with Primary Ciliary Dyskinesia: A Heterogeneous Disease with a Controversial Diagnosis.

Abstract excerpt

BACKGROUND AND OBJECTIVE: Primary ciliary dyskinesia (PCD) is a rare genetic condition characterised by abnormal ciliary motility, primarily affecting the respiratory tract. Despite its clinical significance, there is currently no gold standard for PCD diagnosis. This study aims to address this diagnostic challenge by evaluating a comprehensive approach in a large cohort of patients with suspected PCD. METHODS:...

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