Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré type

Neurology. 2009 Oct 6;73(14):1164; author reply 1164-5. doi: 10.1212/WNL.0b013e3181b26daf.
No abstract available

Publication types

  • Letter
  • Comment

MeSH terms

  • Apolipoprotein C-III / biosynthesis
  • Apolipoprotein C-III / blood
  • Apolipoprotein C-III / metabolism*
  • Brain / abnormalities*
  • Congenital Abnormalities / classification
  • Cutis Laxa / complications*
  • Cutis Laxa / metabolism
  • Dystroglycans / metabolism*
  • Glycosylation
  • Humans
  • Malformations of Cortical Development / classification*
  • Malformations of Cortical Development / metabolism
  • Mutation
  • Proton-Translocating ATPases / genetics*
  • Receptors, G-Protein-Coupled / genetics

Substances

  • ADGRG1 protein, human
  • ATP6V0A2 protein, human
  • Apolipoprotein C-III
  • Receptors, G-Protein-Coupled
  • Dystroglycans
  • Proton-Translocating ATPases