Regressive Autism Spectrum Disorder Expands the Phenotype of BSCL2/Seipin-Associated Neurodegeneration

Biol Psychiatry. 2019 Feb 15;85(4):e17-e19. doi: 10.1016/j.biopsych.2018.05.010. Epub 2018 Aug 24.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Autism Spectrum Disorder / complications
  • Autism Spectrum Disorder / genetics*
  • Female
  • GTP-Binding Protein gamma Subunits / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Mutation
  • Parkinson Disease / complications
  • Parkinson Disease / genetics
  • Phenotype

Substances

  • BSCL2 protein, human
  • GTP-Binding Protein gamma Subunits