Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure

J Pediatr Gastroenterol Nutr. 2012 Feb;54(2):291-4. doi: 10.1097/MPG.0b013e318227e53c.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Cholestasis / complications
  • Cholestasis / diagnosis
  • Cholestasis / genetics*
  • DNA Helicases / genetics*
  • DNA Mutational Analysis
  • Fanconi Syndrome / complications
  • Fanconi Syndrome / diagnosis
  • Female
  • Genetic Markers
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Liver Failure, Acute / complications
  • Liver Failure, Acute / diagnosis
  • Liver Failure, Acute / genetics*
  • Mitochondrial Proteins
  • Point Mutation*

Substances

  • Genetic Markers
  • Mitochondrial Proteins
  • DNA Helicases
  • TWNK protein, human