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Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms
Authors:Inga M. Höben  Rim Hjeij  Heike Olbrich  Gerard W. Dougherty  Tabea Nöthe-Menchen  Isabella Aprea  Diana Frank  Petra Pennekamp  Bernd Dworniczak  Julia Wallmeier  Johanna Raidt  Kim G. Nielsen  Maria C. Philipsen  Francesca Santamaria  Laura Venditto  Israel Amirav  Huda Mussaffi  Freerk Prenzel  Heymut Omran
Affiliation:1. Department of General Pediatrics, University Children’s Hospital Muenster, 48149 Muenster, Germany;2. Danish PCD Centre, Pediatrics Pulmonary Service, Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, 2100 Copenhagen, Denmark;3. Department of Translational Medical Sciences, Federico II University, 80131 Naples, Italy;4. Department of Pediatrics, University of Alberta, T6G 1C9 Edmonton, Alberta, Canada;5. Schneider Children’s Medical Center, 4920235 Petach-Tikva, Israel;6. Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, 69978 Tel Aviv, Israel;7. Clinic for Pediatrics and Adolescent Medicine, University Hospital Leipzig, 04103 Leipzig, Germany;8. Genome Research Division, Human Genetics Department, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, 6525KL Nijmegen, The Netherlands;9. Pediatric Genetics Division, Center for Pediatrics and Adolescent Medicine, Faculty of Medicine, Freiburg University, Mathildenstrasse 1, 79112 Freiburg, Germany
Abstract:
Keywords:C11ORF70  primary ciliary dyskinesia  cilia  sperm flagella  preassembly  dynein arms
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