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Article

Clinical and molecular characteristics of primary ciliary dyskinesia

12 Mar 2021

Abstract excerpt

Background: Primary ciliary dyskinesia (PCD) is a ciliopathy with diverse clinical and genetic findings caused by abnormal motile cilia structure and function. In this study, we describe the clinical characteristics of confirmed PCD cases in our population and report the radiological, genetic, and laboratory findings. Methods: This was a retrospective, observational, single-centre study. We enrolled 18 patients...

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PMID: 34401452
DOI: 10.1016/j.ijpam.2021.03.002

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