Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

J Med Genet. 2003 Jun;40(6):441-6. doi: 10.1136/jmg.40.6.441.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Brain / growth & development
  • Brain / pathology
  • Cerebellum / abnormalities*
  • Cerebellum / growth & development
  • Cerebellum / pathology
  • Chromosomes, Human, X / genetics*
  • Cytoskeletal Proteins*
  • Dosage Compensation, Genetic
  • Female
  • GTPase-Activating Proteins*
  • Genetic Linkage / genetics*
  • Heterozygote
  • Humans
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging / methods
  • Male
  • Mutation*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Phosphoproteins / genetics*

Substances

  • Cytoskeletal Proteins
  • GTPase-Activating Proteins
  • Nuclear Proteins
  • OPHN1 protein, human
  • Phosphoproteins