Blepharophimosis-ptosis-epicanthus inversus syndrome

Pediatr Int. 2011 Jun;53(3):390-2. doi: 10.1111/j.1442-200X.2010.03223.x.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Blepharophimosis / diagnosis
  • Blepharophimosis / genetics*
  • Blepharoptosis / diagnosis
  • Blepharoptosis / genetics*
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 3 / genetics*
  • DNA / genetics
  • Diagnosis, Differential
  • Eyelids / abnormalities*
  • Female
  • Genetic Linkage / genetics
  • Humans
  • Infant
  • Male
  • Mutation
  • Pedigree
  • Polymerase Chain Reaction
  • Syndrome

Substances

  • DNA