A Child With Ichthyosis and Liver Failure

J Pediatr Gastroenterol Nutr. 2017 Sep;65(3):e70-e73. doi: 10.1097/MPG.0000000000001645.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA, Mitochondrial / genetics
  • Exome Sequencing / methods
  • Filaggrin Proteins
  • Humans
  • Ichthyosis / complications*
  • Ichthyosis / genetics
  • Infant
  • Intermediate Filament Proteins / genetics*
  • Liver Failure / complications*
  • Liver Failure / genetics
  • Male
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / genetics
  • Mitochondrial Proteins / genetics*
  • Mutation
  • tRNA Methyltransferases / genetics*

Substances

  • DNA, Mitochondrial
  • Filaggrin Proteins
  • Intermediate Filament Proteins
  • Mitochondrial Proteins
  • tRNA Methyltransferases
  • TRMU protein, human