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DNAH5geneticsprimary ciliary dyskinesiaPrimary ciliary dyskinesia (PCD) is a recessive genetically heterogeneous disorder of motile cilia with chronic otosinopulmonary disease and organ laterality defects in 50% of cases. The prevalence of PCD is difficult to determine. Recent diagnostic advances through ...
Genomic DNA was extracted using QIAamp DNA Blood Mini Kit (Qiagen, Germany) according to the manufacturer’s protocol. Single-nucleotide polymorphism (SNP) microarray testing was performed using Illumina HumanCytoSNP-12 v2.1 BeadChip (Illumina, USA) and the copy number variation positions were ...