FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome

J Genet. 2007 Aug;86(2):165-8. doi: 10.1007/s12041-007-0021-z.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Blepharophimosis / complications
  • Blepharophimosis / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • Eye Diseases / congenital
  • Eye Diseases / genetics
  • Family
  • Female
  • Forkhead Box Protein L2
  • Forkhead Transcription Factors / genetics*
  • Humans
  • India
  • Infant
  • Male
  • Mutation*
  • Pedigree
  • Syndrome

Substances

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