TBCK Encephaloneuropathy With Abnormal Lysosomal Storage: Use of a Structural Variant Bioinformatics Pipeline on Whole-Genome Sequencing Data Unravels a 20-Year-Old Clinical Mystery

Pediatr Neurol. 2019 Jul:96:74-75. doi: 10.1016/j.pediatrneurol.2019.02.001. Epub 2019 Feb 13.

¹ Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway.
² Division of Pediatric and Adolescent Medicine, Oslo University Hospital, Oslo, Norway; Faculty of Medicine, University of Oslo, Oslo, Norway. Electronic address: petter.stromme@medisin.uio.no.
³ Department of Human Genetics, Radboud UMC, Nijmegen, Netherlands.
⁴ Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. Electronic address: doriana.misceo@medisin.uio.no.

No abstract available

Keywords: GM2 ganglioside; IHPRF3; TBCK; WGS.

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