Three novel FOXL2 gene mutations in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

Chin Med J (Engl). 2006 Jan 5;119(1):49-52.
No abstract available

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Amino Acid Sequence
  • Blepharophimosis / genetics*
  • Blepharoptosis / genetics*
  • Eyelids / abnormalities*
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation*
  • Syndrome

Substances

  • FOXL2 protein, human
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors