EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome

J Clin Immunol. 2022 Jul;42(5):952-954. doi: 10.1007/s10875-022-01266-w. Epub 2022 Apr 7.
No abstract available

Publication types

  • Letter

MeSH terms

  • Agenesis of Corpus Callosum* / diagnosis
  • Agenesis of Corpus Callosum* / genetics
  • Agenesis of Corpus Callosum* / pathology
  • Autophagy-Related Proteins / genetics
  • Cataract* / pathology
  • Humans
  • Mutation / genetics
  • Vesicular Transport Proteins / genetics

Substances

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

Supplementary concepts

  • Absent corpus callosum cataract immunodeficiency