title: Different phenotypes among Lesch-Nyhan variants: clinical reality or limitation of ascertainment?
authors.forename: Rong
authors.initials: R
authors.lastname: Fu
authors.forename: Hyder A
authors.initials: HA
authors.lastname: Jinnah
mesh_terms: D000368:Aged; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004401:Dysarthria / Q000503:physiopathology*; D004421:Dystonia / Q000503:physiopathology*; D005091:Exons; D005260:Female; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics* / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000201:enzymology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase