Article
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Journal of medical genetics - 1 Apr 2020
Blanchon Sylvain, Legendre Marie, Bottier Mathieu, Tamalet Aline, Montantin Guy, Collot Nathalie, Faucon Catherine, Dastot Florence, Copin Bruno, Clement Annick, Filoche Marcel, Coste André, Amselem Serge, Escudier Estelle, Papon Jean-Francois, Louis Bruno
Abstract excerpt
BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder resulting in abnormal ciliary motility/structure, extremely heterogeneous at genetic and ultrastructural levels. We aimed, in light of extensive genotyping, to identify specific and quantitative ciliary beating anomalies, according to the ultrastructural phenotype. METHODS: We prospectively included 75 patients with PCD exhibiting the main...
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