A new mutation of Fanconi-Bickel syndrome with liver failure and pseudotumour cerebri

J Genet. 2012;91(3):359-61. doi: 10.1007/s12041-012-0198-7.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • DNA Mutational Analysis
  • Fanconi Syndrome / complications
  • Fanconi Syndrome / genetics*
  • Fatal Outcome
  • Glucose Transporter Type 2 / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Liver Failure / complications*
  • Male
  • Mutation*
  • Pseudotumor Cerebri / complications*

Substances

  • Glucose Transporter Type 2