Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues.

@article{Pasteris1999IsolationCA,
  title={Isolation, characterization, and mapping of the mouse and human Fgd2 genes, faciogenital dysplasia (FGD1; Aarskog syndrome) gene homologues.},
  author={N. German Pasteris and Jerome L. Gorski},
  journal={Genomics},
  year={1999},
  volume={60 1},
  pages={57-66}
}
FGD1 encodes a guanine nucleotide exchange factor (GEF) that specifically activates the Rho GTPase Cdc42. FGD1 gene mutations result in faciogenital dysplasia (FGDY, Aarskog syndrome), an X-linked developmental disorder that adversely affects the formation of multiple skeletal structures. Database searches show that the Caenorhabditis elegans genome… CONTINUE READING