Background and objectives Primary ciliary dyskinesia (PCD, ORPHA: 244) is a group of rare
genetic disorders characterized by dysfunction of motile cilia. It is phenotypically and …

Motile cilia are hairlike organelles that project outward from a tissue-restricted subset of cells
to direct fluid flow. During human development motile cilia guide determination of the left …

Rationale: Primary ciliary dyskinesia (PCD) is a heterogeneous, multisystem disorder
characterized by defective ciliary beating. Diagnostic guidelines of the American Thoracic …

The radial spoke head protein 4 homolog A (RSPH4A) gene is one of more than 50 genes
that cause Primary ciliary dyskinesia (PCD), a rare genetic ciliopathy. Genetic mutations in …

Cilia are microtubule-based hair-like organelles on the cell surface. Cilia have been
implicated in various biological processes ranging from mechanosensation to fluid …

Background Primary ciliary dyskinesia (PCD) is typically an autosomal recessive disease
characterized by recurrent infections of the lower respiratory tract, frequent and severe otitis …

Primary ciliary dyskinesia (PCD) has been linked to more than 50 genes that cause a
spectrum of clinical symptoms, including newborn respiratory distress, sinopulmonary …

Primary ciliary dyskinesia (PCD) is a poorly understood disorder. It is primarily autosomal
recessive and is prevalent in tribal communities of the United Arab Emirates due to …

Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterized by impaired motile
cilia function, particularly in the upper and lower airways. To date, more than 50 causative …

Highlights What are the main findings? Patients with the RSPH4A (c. 921+ 3_921+ 6del
(intronic)) founder mutation have low nNO levels. Adding new diagnostic tools such as nNO …