Novel BCOR mutations in patients with oculofaciocardiodental (OFCD) syndrome

Clin Genet. 2014 Feb;85(2):194-7. doi: 10.1111/cge.12125. Epub 2013 Apr 5.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Cataract / congenital*
  • Cataract / genetics
  • Cataract / pathology
  • Codon, Nonsense / genetics
  • Female
  • Heart Septal Defects / genetics*
  • Heart Septal Defects / pathology*
  • Humans
  • Infant
  • Microphthalmos / genetics*
  • Microphthalmos / pathology*
  • Mutation, Missense / genetics
  • Proto-Oncogene Proteins / genetics*
  • Repressor Proteins / genetics*
  • Young Adult

Substances

  • BCOR protein, human
  • Codon, Nonsense
  • Proto-Oncogene Proteins
  • Repressor Proteins

Supplementary concepts

  • Microphthalmia, syndromic 2