[Familial EXOSC3-related pontocerebellar hypoplasia]

An Pediatr (Barc). 2017 May;86(5):284-286. doi: 10.1016/j.anpedi.2016.09.011. Epub 2016 Nov 19.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cerebellar Diseases / genetics*
  • Exosome Multienzyme Ribonuclease Complex / genetics*
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • RNA-Binding Proteins / genetics*

Substances

  • EXOSC3 protein, human
  • RNA-Binding Proteins
  • Exosome Multienzyme Ribonuclease Complex

Supplementary concepts

  • Pontocerebellar Hypoplasia