A Novel VPS33B Mutation Causing a Mild Phenotype of Arthrogryposis, Renal dysfunction, and Cholestasis Syndrome

J Pediatr Gastroenterol Nutr. 2019 Aug;69(2):e55-e56. doi: 10.1097/MPG.0000000000002306.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Arthrogryposis / diagnosis*
  • Arthrogryposis / genetics
  • Cholestasis / diagnosis*
  • Cholestasis / genetics
  • Diagnosis, Differential
  • Humans
  • Infant
  • Male
  • Mutation
  • Phenotype
  • Renal Insufficiency / diagnosis*
  • Renal Insufficiency / genetics
  • Vesicular Transport Proteins / genetics*

Substances

  • VPS33B protein, human
  • Vesicular Transport Proteins

Supplementary concepts

  • Arthrogryposis renal dysfunction cholestasis syndrome