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Quantitative High-Speed Video Profiling Discriminates between DNAH11 and HYDIN Variants of Primary Ciliary Dyskinesia

22 May 2019

Abstract excerpt

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous condition. The number of genes associated with primary ciliary dyskinesia is rising, and the link between genotype and clinical phenotype is largely unknown (1). Recent advances in molecular genotyping have helped establish the association between genetic defects and aberrant cilia ultrastructure in PCD, as detected by transmission electron...

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PMID: 31116566
DOI: 10.1164/rccm.201812-2256le

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