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Pathogenic variants in CFAP46 , CFAP54 , CFAP74 , and CFAP221 cause Primary Ciliary Dyskinesia with a defective C1d projection of the central apparatus.

Autor: Wohlgemuth K; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.; These authors contributed equally to this work., Hoersting N; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany.; These authors contributed equally to this work., Koenig J; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Loges NT; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Raidt J; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., George S; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Cindrić S; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Schramm A; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Biebach L; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Lay S; Department of Pediatric Pneumology and Allergology, Fachkliniken Wangen, Wangen, Germany., Dougherty GW; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Olbrich H; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Pennekamp P; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Dworniczak B; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany., Omran H; Department of General Pediatrics, University Children's Hospital Muenster, Muenster, Germany heymut.omran@ukmuenster.de.

Publikováno v: The European respiratory journal [Eur Respir J] 2024 Oct 03. Date of Electronic Publication: 2024 Oct 03.