About the Authors
- Karolina Kobus
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* E-mail: kolanshy@molgen.mpg.de (MK); kobus@molgen.mp.de (KK)
Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany
- Daniela Hartl
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Affiliation Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany
- Claus Eric Ott
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Affiliation Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany
- Monika Osswald
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Affiliation Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany
- Angela Huebner
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Affiliation Klinik für Kinder- und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Maja von der Hagen
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Affiliation Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
- Denise Emmerich
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Affiliation Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany
- Jirko Kühnisch
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Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany
- Hans Morreau
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Affiliation Department of Pathology, Leiden University Center, Albinusdreef 2, 2333ZA, Leiden, The Netherlands
- Frederik J. Hes
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Affiliation Department of Clinical Genetics, Leiden University Center, Albinusdreef 2, 2333ZA, Leiden, The Netherlands
- Victor F. Mautner
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Affiliation Department of Maxillofacial Surgery, University Hospital Eppendorf, Hamburg, Germany
- Anja Harder
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Affiliation Institute of Neuropathology, University Hospital Münster, Münster, Germany
- Sigrid Tinschert
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Affiliation Department of Medical Genetics, Molecular and Clinical Pharmacology, Medical University Innsbruck, Innsbruck, Austria
- Stefan Mundlos
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Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany, Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Berlin, Germany
- Mateusz Kolanczyk
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* E-mail: kolanshy@molgen.mpg.de (MK); kobus@molgen.mp.de (KK)
Affiliations Institute for Medical Genetics and Human Genetics, Charité, Universitätsmedizin Berlin, Berlin, Germany, Max Planck Institute for Molecular Genetics, FG Development & Disease, Berlin, Germany
Competing Interests
The authors have declared that no competing interests exist.
Author Contributions
Performed the experiments: KK DH CEO MO MV DE MK A. Huebner MH. Analyzed the data: MK KK. Contributed reagents/materials/analysis tools: A. Huebner VFM FJH HM JK KK. Wrote the paper: SM ST VFM MK HM JK MH. Designed the experiments: MK KK. Performed genotyping and Western blot analysis: MO. Provided clinical and genetic data and patient material: HM FH VFM. Provided histopathological analysis: A. Harder.