Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype

What is it about?

Factors leading to the variability in lung disease in primary ciliary dyskinesia are poorly understood. We demonstrate that lung function declines more rapidly over time and that growth parameters are worse in young patients with specific defects in their cilia, the majority of which have mutations in two genes (CCDC39 or CCDC40).

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