Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis

Chin Med J (Engl). 2016 Jan 5;129(1):98-100. doi: 10.4103/0366-6999.172603.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cholestasis / genetics*
  • Humans
  • Hydroxysteroid Dehydrogenases / genetics*
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases / genetics
  • Mutation

Substances

  • Hydroxysteroid Dehydrogenases