Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation

J Pediatr Gastroenterol Nutr. 2014 Mar;58(3):e29-32. doi: 10.1097/MPG.0b013e318298108f.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / genetics*
  • Carrier Proteins / genetics*
  • Cholestasis / genetics*
  • Female
  • Humans
  • Infant
  • Mutation*
  • Renal Insufficiency / genetics*
  • Syndrome
  • Vesicular Transport Proteins

Substances

  • Carrier Proteins
  • VIPAS39 protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Arthrogryposis renal dysfunction cholestasis syndrome