American journal of respiratory and critical care medicine
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Am. J. Respir. Crit. Care Med. · Jan 2019
Multicenter Study Observational StudyPrimary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype.
In primary ciliary dyskinesia, factors leading to disease heterogeneity are poorly understood. ⋯ Participants with IDA/MTD/CA defects, which included individuals with CCDC39 or CCDC40 mutations, had worse lung function and growth indices compared with those with outer dynein arm defects and DNAH5 mutations, respectively. The only group with a significant lung function decline over time were participants with IDA/MTD/CA defects.