A null variant in PUS3 confirms its involvement in intellectual disability and further delineates the associated neurodevelopmental disease

Clin Genet. 2018 Dec;94(6):586-587. doi: 10.1111/cge.13443. Epub 2018 Oct 11.
No abstract available

Publication types

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

MeSH terms

  • Alleles
  • Brain / abnormalities
  • Brain / diagnostic imaging
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genetic Variation*
  • Genotype
  • Humans
  • Hydro-Lyases / genetics*
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics*
  • Magnetic Resonance Imaging
  • Neurodevelopmental Disorders / diagnosis*
  • Neurodevelopmental Disorders / genetics*
  • Pedigree

Substances

  • Hydro-Lyases
  • pseudouridylate synthetase