Article
Primary ciliary dyskinesia in Volendam: Diagnostic and phenotypic features in patients with a CCDC114 mutation.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Mar 2022
Kos Renate, Israëls Joël, van Gogh Christine D L, Altenburg Josje, Diepenhorst Sandra, Paff Tamara, Boon Elles M J, Micha Dimitra, Pals Gerard, Neerincx Anne H, Maitland-van der Zee Anke H, Haarman Eric G
Abstract excerpt
Primary ciliary dyskinesia (PCD) is a heterogeneous disease, with impaired mucociliary clearance causing respiratory tract infections. A founding CCDC114 mutation has led to a relatively homogeneous and large Dutch PCD population in Volendam. Our aim was to describe their phenotype. Therefore, all Volendam PCD patients seen at the Amsterdam UMC were included in this study. Data were collected on lung function,...
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