SOX2 anophthalmia syndrome in adulthood - a neurodegenerative picture?

Clin Genet. 2013 May;83(5):482-4. doi: 10.1111/j.1399-0004.2012.01922.x. Epub 2012 Jul 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Anophthalmos / diagnosis
  • Anophthalmos / genetics*
  • Brain / pathology
  • Facies
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Mutation
  • Phenotype
  • SOXB1 Transcription Factors / genetics*
  • Syndrome

Substances

  • SOX2 protein, human
  • SOXB1 Transcription Factors