The case: familial renal failure with ocular abnormality.
Bacchetta
J
J
Département de Pédiatrie, Centre de Référence des Maladies Rénales Rares, Hôpital Edouard Herriot, Université Claude Bernard Lyon 1, Lyon, France.
Habault
C
C
Liutkus
A
A
Cochat
P
P
D058186:Acute Kidney Injury / Q000150:complications / Q000235:genetics*; D002675:Child, Preschool; D003103:Coloboma / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities*; D051762:PAX2 Transcription Factor / Q000235:genetics*; D013577:Syndrome
D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human