Clinical utility gene card for: Vici Syndrome

Eur J Hum Genet. 2014 Mar;22(3). doi: 10.1038/ejhg.2013.142. Epub 2013 Jul 10.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis*
  • Agenesis of Corpus Callosum / genetics
  • Antigens, Neoplasm / genetics
  • Autophagy-Related Proteins
  • Cataract / diagnosis*
  • Cataract / genetics
  • Genetic Testing*
  • Humans
  • Lysosomal Membrane Proteins
  • Proteins / genetics
  • Proteins / metabolism*
  • Vesicular Transport Proteins

Substances

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

Supplementary concepts

  • Absent corpus callosum cataract immunodeficiency

Associated data

  • OMIM/OMIM242840