title: Clinical utility gene card for: Aarskog-Scott syndrome (faciogenital dysplasia).
authors.affiliation: Dipartimento dei Servizi, Medicina Molecolare, Azienda Ospedaliera Universitaria Senese, Policlinico S. Maria alle Scotte, Viale Bracci 2,Siena, Italy.a.orrico@ao-siena.toscana.it
authors.forename: Alfredo
authors.initials: A
authors.lastname: Orrico
authors.forename: Lucia
authors.initials: L
authors.lastname: Galli
authors.forename: Jill
authors.initials: J
authors.lastname: Clayton-Smith
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Fryns
mesh_terms: D004392:Dwarfism / Q000175:diagnosis* / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics*; D005837:Genitalia, Male / Q000002:abnormalities; D020662:Guanine Nucleotide Exchange Factors / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D009154:Mutation
chemical_list: C490796:FGD1 protein, human; D020662:Guanine Nucleotide Exchange Factors