TSEN54 mutation in a child with pontocerebellar hypoplasia type 1

Acta Neuropathol. 2011 May;121(5):671-3. doi: 10.1007/s00401-011-0823-1. Epub 2011 Apr 6.
No abstract available

Publication types

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

MeSH terms

  • Cerebellum / pathology*
  • Child
  • Endoribonucleases / genetics*
  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Male
  • Mutation*
  • Olivopontocerebellar Atrophies / genetics*
  • Olivopontocerebellar Atrophies / pathology*
  • Pedigree
  • Pons / pathology*
  • Severity of Illness Index

Substances

  • Endoribonucleases
  • TSEN54 protein, human

Supplementary concepts

  • Pontocerebellar Hypoplasia Type 1