title: Renal-coloboma syndrome in a Brazilian family.
authors.forename: P I
authors.initials: PI
authors.lastname: Gus
authors.forename: C F
authors.initials: CF
authors.lastname: de Souza
authors.forename: S
authors.initials: S
authors.lastname: Porteous
authors.forename: M
authors.initials: M
authors.lastname: Eccles
authors.forename: R
authors.initials: R
authors.lastname: Giugliani
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D003103:Coloboma / Q000235:genetics*; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009900:Optic Nerve / Q000002:abnormalities*; D051762:PAX2 Transcription Factor; D010375:Pedigree; D010530:Peritoneal Dialysis; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D051437:Renal Insufficiency / Q000209:etiology / Q000628:therapy; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors