No evidence for locus heterogeneity in Knobloch syndrome

J Med Genet. 2013 Aug;50(8):565-6. doi: 10.1136/jmedgenet-2013-101755. Epub 2013 May 10.
No abstract available

Keywords: Academic medicine.

Publication types

  • Letter

MeSH terms

  • ADAM Proteins / genetics
  • ADAMTS Proteins
  • Collagen Type XVIII / genetics*
  • Encephalocele / genetics*
  • Genetic Heterogeneity*
  • Humans
  • Mutation
  • Retinal Degeneration
  • Retinal Detachment / congenital*
  • Retinal Detachment / genetics

Substances

  • Collagen Type XVIII
  • ADAM Proteins
  • ADAMTS Proteins
  • ADAMTS18 protein, human

Supplementary concepts

  • Knobloch syndrome