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.
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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
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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
- Internal Medicine
- Metabolic Disease
- Exchange Factor