New ocular phenotype associated with a mutation in the PAX2 gene.
Beby
F
F
Roche
O
O
Cochat
P
P
Ranchin
B
B
Kohler
R
R
Bonifas
C
C
Cordier
M-P
MP
Attie-Bitach
T
T
Burillon
C
C
Denis
P
P
D002648:Child; D003103:Coloboma / Q000235:genetics / Q000503:physiopathology; D003316:Corneal Diseases / Q000235:genetics* / Q000473:pathology*; D005260:Female; D006801:Humans; D007908:Lens, Crystalline / Q000473:pathology*; D009154:Mutation; D009900:Optic Nerve / Q000002:abnormalities*; D051762:PAX2 Transcription Factor / Q000235:genetics*; D010641:Phenotype; D051437:Renal Insufficiency / Q000235:genetics / Q000503:physiopathology; D014718:Vesico-Ureteral Reflux / Q000235:genetics / Q000503:physiopathology
D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human