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DOCK6 Mutations Are Responsible for a Distinct Autosomal‐Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies
Authors:Hülya Kayserili  Dietmar Müller  Beyhan Tüysüz  Deborah M. Ruddy  Emma Wakeling  Karen Helene Ørstavik  Nuria C. Bramswig  Katie M. Snape  Richard Trembath  Maryse De Smedt  Nathalie van der Aa  Martin Skalej  Stefan Mundlos  Martin Zenker
Affiliation:1. Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany;2. These authors contributed equally as first authors.;3. Medical Genetics Department, Istanbul Medical Faculty, Istanbul, Turkey;4. Institut für Medizinische Genetik, Klinikum Chemnitz, Chemnitz, Germany;5. Department of Pediatric Genetics, Istanbul University, Istanbul, Turkey;6. Department of Clinical Genetics, Guy's Hospital, London, UK;7. North West Thames Regional Genetics Service, North West London Hospitals NHS Trust, Harrow, UK;8. Department of Medical Genetics, Oslo University Hospital, Oslo, Norway;9. Institut für Humangenetik, Universit?tsklinikum Essen, Universit?t Duisburg‐Essen, Essen, Germany;10. Department of Clinical Genetics, St George's Healthcare NHS Trust, London, UK;11. Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK;12. Department of Medical Genetics, Leuven University Hospital, Leuven, Belgium;13. Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium;14. Institute of Neuroradiology, Otto von Guericke University Magdeburg, Magdeburg, Germany;15. Institute for Medical and Human Genetics Charité, Universit?tsmedizin Berlin and Max Planck Institute for Molecular Genetics Berlin, Berlin, Germany;16. Department of Medical Genetics, University of Antwerp, Antwerp, Belgium;17. These authors contributed equally as senior authors.;18. Division of Genetics and Molecular Medicine, King's College London, London, UK
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