title: What syndrome is this? Lesch-Nyhan syndrome.
authors.affiliation: Department of Pediatrics, Oasi Institute for Research on Mental Retardation and Brain Aging, Troina, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Schepis
authors.forename: D
authors.initials: D
authors.lastname: Greco
authors.forename: M
authors.initials: M
authors.lastname: Siragusa
authors.forename: C
authors.initials: C
authors.lastname: Romano
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005091:Exons / Q000235:genetics; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D017354:Point Mutation; D014960:X Chromosome / Q000235:genetics
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase