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.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Computational Biology
  • Fatal Outcome
  • Female
  • Humans
  • 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*
  • Whole Genome Sequencing

Substances

  • Protein-Serine-Threonine Kinases
  • TBCK protein, human