CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene

Am J Med Genet A. 2007 Jul 1;143A(13):1514-8. doi: 10.1002/ajmg.a.31784.
No abstract available

Publication types

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

MeSH terms

  • Brain / abnormalities*
  • Brain Diseases / genetics
  • Brain Diseases / pathology
  • Child, Preschool
  • Collagen Type XVIII / genetics*
  • Collagen Type XVIII / metabolism
  • Female
  • Fetus / abnormalities*
  • Fetus / innervation
  • Hamartoma / genetics
  • Hamartoma / pathology
  • Humans
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Mutation
  • Myopia / genetics*
  • RNA Splice Sites / genetics
  • Syndrome

Substances

  • Collagen Type XVIII
  • RNA Splice Sites