Familial intellectual disability in an Iranian family with a novel truncating mutation in CEP290

Clin Genet. 2014 Oct;86(4):387-90. doi: 10.1111/cge.12296. Epub 2013 Oct 31.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Antigens, Neoplasm / genetics*
  • Cell Cycle Proteins
  • Child, Preschool
  • Cytoskeletal Proteins
  • Female
  • Humans
  • Intellectual Disability / genetics*
  • Intellectual Disability / pathology
  • Iran
  • Male
  • Mutation
  • Neoplasm Proteins / genetics*

Substances

  • Antigens, Neoplasm
  • Cell Cycle Proteins
  • Cep290 protein, human
  • Cytoskeletal Proteins
  • Neoplasm Proteins