High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one‐third of probands are minors

Author:

Spiegler Stefanie1,Najm Juliane1,Liu Jian2,Gkalympoudis Stephanie1,Schröder Winnie1,Borck Guntram3,Brockmann Knut4,Elbracht Miriam5,Fauth Christine6,Ferbert Andreas7,Freudenberg Leonie8,Grasshoff Ute9,Hellenbroich Yorck10,Henn Wolfram11,Hoffjan Sabine12,Hüning Irina10,Korenke G. Christoph13,Kroisel Peter M.14,Kunstmann Erdmute15,Mair Martina11,Munk‐Schulenburg Susanne16,Nikoubashman Omid17,Pauli Silke18,Rudnik‐Schöneborn Sabine5,Sudholt Irene19,Sure Ulrich20,Tinschert Sigrid21,Wiednig Michaela22,Zoll Barbara18,Ginsberg Mark H.2,Felbor Ute1

Affiliation:

1. Department of Human Genetics University Medicine Greifswald and Interfaculty Institute of Genetics and Functional Genomics University of Greifswald Greifswald Germany

2. Department of Medicine University of California San Diego San Diego California

3. Institute of Human Genetics University of Ulm Ulm Germany

4. Department of Paediatrics and Paediatric Neurology University of Göttingen Göttingen Germany

5. Institute of Human Genetics University of Aachen Aachen Germany

6. Division of Human Genetics Medical University Innsbruck Innsbruck Austria

7. Department of Neurology Klinikum Kassel GmbH Kassel Germany

8. Department of Neuropaediatrics University Hospital Dresden Dresden Germany

9. Institute of Medical Genetics and Applied Genomics Rare Disease Center Tübingen University of Tübingen Tübingen Germany

10. Institute of Human Genetics University of Lübeck Lübeck Germany

11. Department of Human Genetics Saarland University Homburg/Saar Germany

12. Department of Human Genetics Ruhr‐University Bochum Germany

13. Department of Neuropaediatrics Children's Hospital Oldenburg Germany

14. Institute of Human Genetics Medical University Graz Graz Austria

15. Institute of Human Genetics University of Würzburg Würzburg Germany

16. Institute of Human Genetics University of Freiburg Freiburg Germany

17. Department for Interventional and Diagnostic Neuroradiology University Hospital Aachen Aachen Germany

18. Institute of Human Genetics University of Göttingen Göttingen Germany

19. Institute of Medical Genetics University of Zürich Zürich Switzerland

20. Department of Neurosurgery University Hospital Essen Essen Germany

21. Institute of Clinical Genetics Technical University of Dresden Dresden Germany

22. Department of Environmental Dermatology and Venereology Medical University Graz Graz Austria

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

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