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

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.

Author information

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.

KEYWORDS:

GM2 ganglioside; IHPRF3; TBCK; WGS

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