Article
Pathogenic variants in CFAP46, CFAP54, CFAP74 and CFAP221 cause primary ciliary dyskinesia with a defective C1d projection of the central apparatus.
The European respiratory journal - 1 Dec 2024
Wohlgemuth Kai, Hoersting Niklas, Koenig Julia, Loges Niki Tomas, Raidt Johanna, George Sebastian, Cindrić Sandra, Schramm Andre, Biebach Luisa, Lay Simon, Dougherty Gerard W, Olbrich Heike, Pennekamp Petra, Dworniczak Bernd, Omran Heymut
Abstract excerpt
BACKGROUND: Primary ciliary dyskinesia is a rare genetic disorder caused by insufficient mucociliary clearance leading to chronic airway infections. The diagnostic guideline of the European Respiratory Society primarily recommends an evaluation of the clinical history (e.g. by the PICADAR prediction tool), nasal nitric oxide production rate measurements, high-speed videomicroscopy analysis of ciliary beating and...
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