Identification of a fibrillin-1 gene mutation in a monozygotic twin presenting with bilateral juvenile-onset ectopia lentis

Korean J Ophthalmol. 2015 Feb;29(1):77-8. doi: 10.3341/kjo.2015.29.1.77.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Twin Study

MeSH terms

  • Child, Preschool
  • DNA Mutational Analysis
  • Diseases in Twins / genetics*
  • Diseases in Twins / metabolism
  • Ectopia Lentis / genetics*
  • Ectopia Lentis / metabolism
  • Extracellular Matrix Proteins
  • Fibrillins
  • Humans
  • Male
  • Microfilament Proteins / genetics*
  • Microfilament Proteins / metabolism
  • Mutation*
  • Twins, Monozygotic*

Substances

  • Extracellular Matrix Proteins
  • Fibrillins
  • Microfilament Proteins