Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

J Med Genet. 2005 Mar;42(3):253-9. doi: 10.1136/jmg.2004.021899.
No abstract available

Publication types

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

MeSH terms

  • Blepharoptosis / genetics*
  • Child
  • Chromosome Mapping
  • Chromosome Segregation
  • Chromosomes, Human, Pair 13 / genetics*
  • Chromosomes, Human, Pair 2 / genetics*
  • Female
  • Fibrosis
  • Genetic Predisposition to Disease*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Middle Aged
  • Oculomotor Muscles / pathology
  • Ophthalmoplegia / congenital
  • Ophthalmoplegia / genetics*
  • Ophthalmoplegia / pathology
  • Pedigree
  • Translocation, Genetic*