首页 | 本学科首页   官方微博 | 高级检索  
   检索      


Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
Authors:Lore Pottie  Christin S Adamo  Aude Beyens  Steffen Lütke  Piyanoot Tapaneeyaphan  Adelbert De Clercq  Phil L Salmon  Riet De Rycke  Alper Gezdirici  Elif Yilmaz Gulec  Naz Khan  Jill E Urquhart  William G Newman  Kay Metcalfe  Stephanie Efthymiou  Reza Maroofian  Najwa Anwar  Shazia Maqbool  Bert Callewaert
Institution:1. Center for Medical Genetics Ghent, Ghent University Hospital, Ghent 9000, Belgium;2. Department of Biomolecular Medicine, Ghent University, Ghent 9000, Belgium;3. Center for Biochemistry, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany;4. Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne 50931, Germany;5. Department of Dermatology, Ghent University Hospital, Ghent 9000, Belgium;6. Bruker microCT, Kontich 2550, Belgium;7. Department of Biomedical Molecular Biology, Ghent University, Ghent 9052, Belgium;8. VIB Center for Inflammation Research, Ghent 9052, Belgium;9. Ghent University Expertise Centre for Transmission Electron Microscopy and VIB Bioimaging Core, Ghent 9052, Belgium;10. Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey;11. Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Health Sciences University, Istanbul 34303, Turkey;12. Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9WL, UK;13. Manchester Centre for Genomic Medicine, St Mary’s Hospital, Manchester University NHS Foundation Trust, Manchester M13 9WL, UK;14. Department of Neuromuscular Disorders, UCL Institute of Neurology, London WC1N 3BG, UK;15. Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore 54000, Pakistan;16. Department of Neurosurgery, King Khalid University Hospital, Riyadh 11211, Saudi Arabia;17. Heart Centre, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;18. Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia;19. Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11211, Saudi Arabia;20. Center for Molecular Medicine Cologne, University of Cologne, Robert-Koch-Street 21, Cologne 50931, Germany;21. Cologne Center for Musculoskeletal Biomechanics, Cologne 50931, Germany
Abstract:
Keywords:cutis laxa syndrome  craniosynostosis  extracellular matrix  short stature  collagen fibrillogenesis  tissue mineral density
本文献已被 ScienceDirect 等数据库收录!
设为首页 | 免责声明 | 关于勤云 | 加入收藏

Copyright©北京勤云科技发展有限公司  京ICP备09084417号