Background and objective: Primary ciliary dyskinesia (PCD) is a rare and genetically
heterogeneous disease and the severity of the disease related with genetic analysis has …

Background and objective Primary ciliary dyskinesia (PCD) is a rare and genetically
heterogeneous disease and the severity of the disease related with genetic analysis has …

The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare autosomal
recessive disorder, remain elusive for~ 20%–35% of patients with complex and abnormal …

Background: The genetic factors contributing to primary ciliary dyskinesia (PCD), a rare
autosomal recessive disorder, remain elusive for approximately 20–35% of patients with …

Primary ciliary dyskinesia (PCD) is a rare genetically heterogeneous disorder caused by the
abnormal structure and/or function of motile cilia. The PCD diagnosis is challenging and …

Significant advances have been made in the diagnosis of patients with primary ciliary
dyskinesia (PCD) including centralised services [ 1–3], European consensus guidelines [4] …

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 …

Purpose We aimed to examine the correlation between clinical characteristics and the
pathogenic gene variants in patients with Primary Ciliary Dyskinesia (PCD). Methods We …

Primary ciliary dyskinesia (PCD) is a clinically and genetically heterogeneous condition
characterized by defective motile cilia activity. There is no" gold standard" diagnostic test …

Primary ciliary dyskinesia (PCD) is a recessive genetic disorder of motile cilia with
substantial genetic and phenotypic heterogeneity. Clinical features of PCD vary from one …