Wolcott-Rallison syndrome: pathogenic insights into neonatal diabetes from new mutation and expression studies of EIF2AK3

J Med Genet. 2003 Sep;40(9):685-9. doi: 10.1136/jmg.40.9.685.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Base Sequence
  • Bone Diseases, Developmental / pathology*
  • Child, Preschool
  • Consanguinity
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Diabetes Mellitus, Type 1 / pathology*
  • Family Health
  • Fatal Outcome
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation
  • Syndrome
  • eIF-2 Kinase / genetics*

Substances

  • DNA
  • EIF2AK3 protein, human
  • eIF-2 Kinase

Associated data

  • OMIM/226980