The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis
database[Title] 2022-01-31
Summary:
BACKGROUND: Primary ciliary dyskinesia (PCD) is a motile ciliopathy characterised by otosinopulmonary infections. Inheritance is commonly autosomal recessive, with extensive locus and allelic heterogeneity. The prevalence is uncertain. Most genetic studies have been done in North America or Europe. The aim of the study was to estimate the worldwide prevalence and ethnic heterogeneity of PCD.