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Exploring Rare Genetic Mutations in PCD: A Study of 8 Turkish Patients with Novel Gene Alterations Coupled by Their Ciliary Beat Frequency and Confocal Microscopy Analyses

2023-11-06

Abstract excerpt

Primary ciliary dyskinesia is a rare genetic ciliopathy characterized by impaired clearance of the airway, leading to recurrent airway infections and various pulmonary conditions. The underlying cause of PCD is complex and involves diverse mechanisms. On one hand, advancements in genetic analysis techniques have significantly contributed to identifying the mutated genes associated with PCD, which in turn, can aid...

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Literature Corpus work
08ef62c3-4b5f-5e56-aff0-7ceed015a66e
DOI
10.22541/au.169924325.54454675/v1
Open publication

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