A rare mutation in the EPG5 gene causes Vici syndrome

Clin Dysmorphol. 2018 Oct;27(4):145-147. doi: 10.1097/MCD.0000000000000233.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Agenesis of Corpus Callosum / genetics*
  • Agenesis of Corpus Callosum / physiopathology
  • Autophagy-Related Proteins
  • Cataract / genetics*
  • Cataract / physiopathology
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Lysosomal Membrane Proteins
  • Male
  • Mutation
  • Proteins / genetics*
  • Proteins / metabolism*
  • Turkey
  • Vesicular Transport Proteins

Substances

  • Autophagy-Related Proteins
  • EPG5 protein, human
  • Lysosomal Membrane Proteins
  • Proteins
  • Vesicular Transport Proteins

Supplementary concepts

  • Absent corpus callosum cataract immunodeficiency