Exome sequencing identifies a recurrent SOX2 deletion in a patient with gait ataxia and dystonia lacking major ocular malformations

J Neurol Sci. 2019 Jun 15:401:34-36. doi: 10.1016/j.jns.2019.04.007. Epub 2019 Apr 8.

¹ Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 43, 17475 Greifswald, Germany.
² Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Rahel-Straus-Straße 10, 26133 Oldenburg, Germany.
³ Opthalmologist, Friedrich-Paffrath-Straße 98, 26389 Wilhelmshaven, Germany.
⁴ Institute of Human Genetics, Technische Universität München, Trogerstraße. 32, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, Ingolstädter Landstraße 1, 85764 Neuherberg, Germany.
⁵ Department of Human Genetics, University Medicine Greifswald, and Interfaculty Institute of Genetics and Functional Genomics, University of Greifswald, Fleischmannstraße 43, 17475 Greifswald, Germany. Electronic address: rathm@uni-greifswald.de.

No abstract available

Keywords: Ataxia; Clinical genetics; Developmental disorders; Dystonia; SOX2.

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