Various phenotypic expressions of familial aniridia with a PAX6 mutation.
Negishi
K
K
Azuma
N
N
Yamada
M
M
D000293:Adolescent; D015783:Aniridia / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005136:Eye Proteins; D018398:Homeodomain Proteins; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D010375:Pedigree; D010641:Phenotype; D012097:Repressor Proteins
D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D000071841:PAX6 Transcription Factor; C000605730:PAX6 protein, human; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins