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

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Bibliographic Details
Published in:Pediatric neurology 2019-07, Vol.96, p.74-75
Main Authors: Sumathipala, Dulika, Strømme, Petter, Gilissen, Christian, Corominas, Jordi, Frengen, Eirik, Misceo, Doriana
Format: Article
Language:English
Subjects:
Child
Computational Biology
Fatal Outcome
Female
GM2 ganglioside
Humans
IHPRF3
Lysosomal Storage Diseases, Nervous System - complications
Lysosomal Storage Diseases, Nervous System - diagnosis
Lysosomal Storage Diseases, Nervous System - genetics
Lysosomal Storage Diseases, Nervous System - physiopathology
Pedigree
Protein-Serine-Threonine Kinases - genetics
TBCK
WGS
Whole Genome Sequencing
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ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2019.02.001