Turner syndrome and haploinsufficiency.
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.
Zinn
A R
AR
University of Texas Southwestern Medical School, Dallas, Texas 75235-8591, USA. andrew@mcdermott.swmed.edu
Ross
J L
JL
D000818:Animals; D005260:Female; D005796:Genes / Q000235:genetics; D006801:Humans; D009006:Monosomy / Q000235:genetics*; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics