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Mutations in TP73 cause impaired mucociliary clearance and lissencephaly
Authors:Julia Wallmeier  Diana Bracht  Hessa S Alsaif  Gerard W Dougherty  Heike Olbrich  Sandra Cindric  Mark Dzietko  Christoph Heyer  Norbert Teig  Charlotte Thiels  Eissa Faqeih  Aqeela Al-Hashim  Sameena Khan  Ibrahim Mogarri  Mohammed Almannai  Wadha Al Otaibi  Fowzan S Alkuraya  Cordula Koerner-Rettberg  Heymut Omran
Institution:1. Department of General Pediatrics, University Hospital Muenster, 48149 Muenster, Germany;2. Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;3. Department for Pediatrics I, University Clinic Essen, Hufelandstrasse 55, 45147 Essen, Germany;4. Institute of Radiology and Pediatric Radiology, University Hospital, Ruhr University Bochum, 44791 Bochum, Germany;5. Department of Neonatology and Pediatric Intensive Care, University Children’s Hospital, Ruhr University Bochum, 44791 Bochum, Germany;6. Department of Neuropediatrics, University Children’s Hospital, Ruhr University Bochum, 44791 Bochum, Germany;7. Department of Pediatric Subspecialties, Children’s Hospital, King Fahad Medical City, Riyadh, Saudi Arabia;8. National Neuroscience Institute, King Fahad Medical City, Riyadh 11211, Saudi Arabia;9. Department of Neurosciences, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;10. Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;11. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia;12. Children’s Hospital Marienhospital Wesel, Pastor-Janssen-Str. 8-38, 46483 Wesel, Germany;13. Department of Pediatric Pneumology, University Children’s Hospital, Ruhr University Bochum, 44791 Bochum, Germany;14. Section of Medical Genetics, Children’s Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia
Abstract:
Keywords:primary ciliary dyskinesia  PCD  motile ciliopathy  lissencephaly  ciliogenesis  TP73  cilia  reduced generation of multiple motile cilia  RGMC
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