Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta
Year: 2015
Type: article
Study design: Case Report
Authors: Lutz Garbes, Kyungho Kim, Angelika Rieß, Heike Hoyer-Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee-Seok Kweon, Ravi Savarirayan, David Amor, Purvi M. Kakadia, Tobias Lindig, Karl Oliver Kagan, Jutta Becker, Simeon A. Boyadjiev, Bernd Wollnik, Oliver Semler, Stefan K. Bohlander, Jinoh Kim, Christian Netzer
Institutions: University of Cologne, University of California Davis Medical Center, University of Tübingen, Cologne Excellence Cluster on Cellular Stress Responses in Aging Associated Diseases, University Children's Hospital Tübingen, Korea Basic Science Institute, The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute, University of Auckland
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funders: National Research Foundation, Bundesministerium für Bildung und Forschung, Ministry of Science, ICT and Future Planning, Korea Basic Science Institute, National Institutes of Health, National Heart, Lung, and Blood Institute, National Institute of General Medical Sciences, National Institute of Dental and Craniofacial Research
Awards: Comprehensive Sequencing and Analysis of Variation in NHLBI Cohorts, Northwest Genomics Center, ARRA - NHLBI Lung Cohorts Sequencing Project, E-Rare Verbund: Ganzheitlicher klinischer und wissenschaftlicher Ansatz für kraniofaziale Fehlbildungen (Cranirare), Teilprojekt Köln, WHI Sequencing Project (WHISP), Verbundprojekt: Forschungsverbund ausgewählter craniofacialer Entwicklungsstörungen (FACE): TP 3: Molekulare Pathogenese syndromaler Kraniosynostosen, Characterization of the interplay between SEC23A and the MAPK signaling pathway, G4010266730, Pathogenesis of diseases caused by aberrant COPII megavesicle assembly, Comprehensive Sequencing and Analysis of Variation in NHLBI Cohorts, ARRA - NHLBI Lung Cohorts Sequencing Project, Human Exome Sequencing in Six Well-Phenotyped NHLBI Cohorts, Human Exome Sequencing in Six Well-Phenotyped NHLBI Cohorts, WHI Sequencing Project (WHISP), Northwest Genomics Center, G8196932267
OpenAlex ID: W2017178662