Article

High diagnostic rate of whole genome sequencing in primary ciliary dyskinesia

2024-02-22

Abstract excerpt

<h4>Aim</h4> Primary ciliary dyskinesia (PCD) is a genetic disorder affecting motile cilia. Most cases are inherited recessively, due to variants in more than 50 genes that result in abnormal or absent motile cilia. This leads to chronic upper and lower airway disease, sub-fertility and laterality defects in some cases. Given overlapping clinical features and genetic heterogeneity, diagnosis can be difficult and o...

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Literature Corpus work: d5657bb2-a387-531d-94e2-11670210a7bb
DOI: 10.1101/2024.02.21.24302995

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