Mutation in PITX2 is associated with ring dermoid of the cornea

J Med Genet. 2004 Dec;41(12):e129. doi: 10.1136/jmg.2004.022434.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Asian People / genetics
  • Chromosome Mapping
  • Chromosomes, Human, Pair 4*
  • Conjunctival Diseases / genetics
  • Corneal Diseases / genetics*
  • Dermoid Cyst / genetics*
  • Eye Neoplasms / genetics*
  • Female
  • Genotype
  • Homeobox Protein PITX2
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Syndrome
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • Transcription Factors

Associated data

  • OMIM/180550