Homeobox genes and disease

Curr Opin Genet Dev. 1997 Jun;7(3):331-7. doi: 10.1016/s0959-437x(97)80146-3.


To date, not many disorders have been associated with homeobox genes, especially with those belonging to the HOX family. This is particularly surprising, considering the body of evidence accumulated for a role of these genes in the control of mammalian development. Recently, this situation has changed and some congenital or somatic defects have been demonstrated to involve mutations in homeobox genes of the HOX, EMX, PAX, and MSX families, as well as in other novel genes containing either a paired- or bicoid-type homeobox.

Publication types

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

MeSH terms

  • Animals
  • Brain / growth & development
  • Congenital Abnormalities / genetics
  • Developmental Biology*
  • Genes, Homeobox* / genetics
  • Genetic Diseases, Inborn / genetics
  • Genetics, Medical*
  • Humans
  • Multigene Family / genetics