Primary ciliary dyskinesia(PCD)is a genetic disease characterized by abnormal ciliary structure and function,with respiratory symptoms being the main clinical manifestation of PCD.The pathogenesis behind PCD is that gene variants cause structural or functional disorders of respiratory cilia and motile cilia of other organs,leading to a series of heterogeneous clinical manifestations,which makes it difficult to identify and diagnose PCD.Combining different disease screening tools and understanding the relationship between genotypes and phenotypes may facilitate early diagnosis and treatment for PCD.
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