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Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia

Rim Hjeij, Isabella Aprea, Marco Poeta, Tabea Nöthe-Menchen, Diana Bracht, Johanna Raidt, Barbara Honecker, Gerard W. Dougherty, Heike Olbrich, Oliver Schwartz, Ulrike Keller, Harald Nüsse, Karin E. M. Diderich, Christian Vogelberg, Francesca Santamaria, Heymut Omran

2023Genetics in Medicine13 citationsDOIOpen Access PDF

Topics & Concepts

Primary ciliary dyskinesiaCiliumDocking (animal)DyneinCalcium-binding proteinCalciumGeneticsBiologyMedicineInternal medicineMicrotubuleLungBronchiectasisNursingCystic Fibrosis Research AdvancesGenetic and Kidney Cyst DiseasesMicrotubule and mitosis dynamics
Pathogenic variants in CLXN encoding the outer dynein arm docking–associated calcium-binding protein calaxin cause primary ciliary dyskinesia | Litcius