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Genetic Spectrum and Clinical Characteristics of Patients with Primary Ciliary Dyskinesia: a Belgian Single Center Study.

Lung - 1 Jun 2024

Rodriguez Mier Noelia, Jaspers Martine, Van Hoof Evelien, Jorissen Mark, Lorent Natalie, Proesmans Marijke, Vermeulen François, Breckpot Jeroen, Boon Mieke

Abstract excerpt

PURPOSE: We aimed to examine the correlation between clinical characteristics and the pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD). METHODS: We conducted a retrospective single-center study in patients with PCD followed at the University Hospitals Leuven. We included patients with genetically confirmed PCD and described their genotype, data from ultrastructural ciliary evaluation and...

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PMID: 38602513
DOI: 10.1007/s00408-024-00696-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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