Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene

Clin Genet. 2005 Dec;68(6):564-6. doi: 10.1111/j.1399-0004.2005.00518.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anophthalmos / genetics*
  • Anophthalmos / pathology
  • Base Sequence / genetics*
  • Brain / abnormalities*
  • Female
  • HMGB Proteins / genetics*
  • Humans
  • Infant
  • Models, Genetic
  • Molecular Sequence Data
  • SOXB1 Transcription Factors
  • Sequence Analysis, DNA
  • Sequence Deletion / genetics*
  • Transcription Factors / genetics*

Substances

  • HMGB Proteins
  • SOX2 protein, human
  • SOXB1 Transcription Factors
  • Transcription Factors