Brittle cornea without clinically-evident extraocular findings in an adult harboring a novel homozygous ZNF469 mutation

Ophthalmic Genet. 2012 Dec;33(4):257-9. doi: 10.3109/13816810.2012.670362. Epub 2012 Apr 9.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Base Sequence
  • Blindness
  • Ehlers-Danlos Syndrome / genetics*
  • Eye Abnormalities
  • Humans
  • Joint Instability / congenital
  • Male
  • Mutation*
  • Sequence Deletion / genetics
  • Skin Abnormalities
  • Transcription Factors / genetics*

Substances

  • Transcription Factors
  • ZNF469 protein, human

Supplementary concepts

  • Brittle cornea syndrome 1