Congenital Hyperinsulinism: Marked Clinical Heterogeneity in Siblings With Identical Mutations in the ABCC8 Gene

Clin Endocrinol (Oxf). 2012 Feb;76(2):312-3. doi: 10.1111/j.1365-2265.2011.04203.x.

Publication types

  • Letter

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Congenital Hyperinsulinism / genetics*
  • Female
  • Glucose Tolerance Test
  • Humans
  • Infant
  • Mutation*
  • Potassium Channels, Inwardly Rectifying / genetics*
  • Receptors, Drug / genetics*
  • Siblings
  • Sulfonylurea Receptors

Substances

  • ATP-Binding Cassette Transporters
  • Potassium Channels, Inwardly Rectifying
  • Receptors, Drug
  • Sulfonylurea Receptors