Recurrent 17 bp duplication in PITX3 is primarily associated with posterior polar cataract (CPP4)

J Med Genet. 2004 Aug;41(8):e109. doi: 10.1136/jmg.2004.020289.
No abstract available

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Amino Acid Sequence / genetics
  • Cataract / genetics*
  • Exons / genetics
  • Female
  • Gene Deletion
  • Gene Duplication*
  • Homeodomain Proteins / genetics*
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Recurrence
  • Transcription Factors / genetics*

Substances

  • Homeodomain Proteins
  • Transcription Factors
  • homeobox protein PITX3

Associated data

  • OMIM/602669