Renal-coloboma syndrome in a Brazilian family.
Gus
P I
PI
de Souza
C F
CF
Porteous
S
S
Eccles
M
M
Giugliani
R
R
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
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors