Importance of Tissue Selection for Genetic Testing: Detection of a Terminal 18q Deletion after Stem Cell Transplantation

Mov Disord Clin Pract. 2020 Apr 3;7(4):453-455. doi: 10.1002/mdc3.12931. eCollection 2020 May.

Authors

Tina Mainka^{1

2}, Saskia Biskup³, Andrea A Kühn¹, Christine Klein⁴, Katja Lohmann⁴, Christos Ganos¹

Affiliations

¹ Department of Neurology Charité University Medicine Berlin Berlin Germany.
² Berlin Institute of Health Berlin Germany.
³ Center for Genomics and Transcriptomics Tübingen Germany.
⁴ Institute of Neurogenetics University of Lübeck Lübeck Germany.

No abstract available

Keywords: 18q deletion; cerebellar ataxia; genetic testing; skin photosensitivity; stem cell transplantation.

Publication types

Case Reports