Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder affecting ciliary
structure and function. PCD exhibiting dynein regulatory complex subunit 1 (DRC1) exon 1 …

Background Primary ciliary dyskinesia (PCD) is a rare genetic disorder caused by functional
impairment of cilia throughout the body. The involvement of copy number variation (CNV) in …

Primary ciliary dyskinesia (PCD) is a hereditary disease caused by pathogenic variants in
genes associated with motile cilia. Some variants responsible for PCD are reported to be …

Background Primary ciliary dyskinesia (PCD) is a relatively rare autosomal recessive or X‐
linked disorder affecting ciliary function. In the set of causative genes, however, predominant …

Objective Primary ciliary dyskinesia (PCD) is a heterogeneous disease characterized by the
failure of mucociliary clearance. Dynein regulatory complex subunit 1 (DRC1) variants can …

Objectives To determine the demographic, clinical, and genetic profile of Turkish Caucasian
PCD cases. Methods Targeted next-generation sequencing (t-NGS) of 46 nuclear genes …

Primary ciliary dyskinesia (PCD), or immotile cilia syndrome (ICS), is an autosomal
recessive disorder affecting ciliary movement with an incidence of 1 in 20000–30000 …

Purpose Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disorder that leads
to secondary ciliary dysfunction. PCD is a rare disease, and data on it are limited in Korea …

Objective: Whole-exome sequencing (WES) based copy number variation (CNV) analysis
has been reported to improve the diagnostic rate in rare genetic diseases. In this study, we …

Background Mutations in the DNAI1 gene, encoding a component of outer dynein arms of
the ciliary apparatus, are the second most important genetic cause of primary ciliary …