Turner syndrome and haploinsufficiency

Curr Opin Genet Dev. 1998 Jun;8(3):322-7. doi: 10.1016/s0959-437x(98)80089-0.


Turner syndrome was one of the first human genetic disorders ascribed to haploinsufficiency but the identification of specific genes responsible for the phenotype has been problematic. Recent data point to several candidate genes, some new and some old, for specific aspects of the phenotype associated with monosomy X in humans.

Publication types

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

MeSH terms

  • Animals
  • Female
  • Genes / genetics
  • Humans
  • Monosomy / genetics*
  • Turner Syndrome / genetics*
  • X Chromosome / genetics
  • Y Chromosome / genetics