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WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
Authors:Janson J White  Juliana F Mazzeu  Zeynep Coban-Akdemir  Yavuz Bayram  Vahid Bahrambeigi  Alexander Hoischen  Bregje WM van Bon  Alper Gezdirici  Elif Yilmaz Gulec  Francis Ramond  Renaud Touraine  Julien Thevenon  Marwan Shinawi  Erin Beaver  Jennifer Heeley  Julie Hoover-Fong  Ceren D Durmaz  Halil Gurhan Karabulut  Claudia MB Carvalho
Institution:1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030, USA;2. University of Brasilia, Brasilia 70910, Brazil;3. Robinow Syndrome Foundation, Anoka, MN 55303, USA;4. Graduate Program in Diagnostic Genetics, School of Health Professions, University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA;5. Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands;6. Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI), Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands;7. Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, Istanbul 34303, Turkey;8. Service de Génétique, CHU-Hôpital Nord, 42000 Saint-Etienne, France;9. Inserm UMR 1231 GAD team, Genetics of Developmental Anomalies, Université de Bourgogne-Franche Comté, 21000 Dijon, France;10. FHU-TRANSLAD, Université de Bourgogne, 21000 CHU Dijon, France;11. Centre de génétique, Hôpital Couple-Enfant, CHU de Grenoble-Alpes, 38700 La Tronche, France;12. Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA;13. Mercy Clinic-Kids Genetics, Mercy Children’s Hospital St. Louis, St. Louis, MO 63141, USA;14. Greenberg Center for Skeletal Dysplasias, McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University, Baltimore, MD 21287, USA;15. Department of Medical Genetics, Ankara University School of Medicine, 06100 Ankara, Turkey;16. Department of Medical Genetics, Erzurum Regional and Training Hospital, 25070 Erzurum, Turkey;17. Erzurum Training and Research Hospital, Department of Pediatric Endocrinology, 25070 Erzurum, Turkey;18. Department of Medical Genetics, Cerrahpasa Medical School, Istanbul University, 34452 Istanbul, Turkey;19. Oxford Centre for Genomic Medicine, Nuffield Orthopaedic Centre, Oxford OX3 7LD, UK;20. Department of Genetics and Evolutionary Biology, Institute of Biosciences, Sao Paulo - SP 05508-090, Brazil;21. Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter EX2 5DW, UK;22. Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX1 2LU, UK;23. Department of Pediatric Genetics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA;24. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA;25. Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands;26. Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands;27. Texas Children’s Hospital, Houston, TX 77030, USA
Abstract:
Keywords:Frizzled  human embryonic development  skeletal dysplasia  dual molecular diagnosis
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