title: An intragenic TaqI polymorphism in the faciogenital dysplasia (FGD1) locus, the gene responsible for Aarskog syndrome.
abstract: A Taq1 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.
authors.affiliation: Department of Human Genetics and Pediatrics and Communicable Diseases, University of Michigan Medical Center, Ann Arbor 48109-0688, USA.
authors.forename: N G
authors.initials: NG
authors.lastname: Pasteris
authors.forename: J L
authors.initials: JL
authors.lastname: Gorski
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D015252:Deoxyribonucleases, Type II Site-Specific / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D014564:Urogenital Abnormalities; D014960:X Chromosome
chemical_list: D015252:Deoxyribonucleases, Type II Site-Specific; C027046:TCGA-specific type II deoxyribonucleases