Springer Nature is making SARS-CoV-2 and COVID-19 research free. View research | View latest news | Sign up for updates

An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome

  • 30 Accesses

  • 4 Citations

Abstract

A TaqI polymorphism, located in intron 4 of the faciogenital dysplasia (FGD1) gene, the gene responsible for Aarskog syndrome, is described. FGD1 encodes a putative Rho/Rac guanine nucleotide exchange factor involved in mammalian morphogenesis. The identification of an intragenic polymorphism will facilitate the accurate carrier detection of individuals at risk for Aarskog syndrome.

This is a preview of subscription content, log in to check access.

References

  1. Pasteris NG, Cadle A, Logie LJ, Porteous MEM, Schwartz CE, Stevenson RE, Glover TW, Wilroy R, Gorski JL (1994) Isolation and characterization of the faciogenital dysplasia (Aarskog-Scott syndrome) gene: a putative Rho/Rac guanine nucleotide exchange factor. Cell 79:669–678

Download references

Author information

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Pasteris, N.G., Gorski, J.L. An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome. Hum Genet 96, 494 (1995). https://doi.org/10.1007/BF00191816

Download citation

Keywords

  • Nucleotide
  • Internal Medicine
  • Metabolic Disease
  • Guanine
  • Exchange Factor