Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.
Benetti
Elisa
E
Nephrology, Dialysis and Transplant Unit, Laboratory of Paediatric Nephrology, Clinical Genetics and Epidemiology Service, Department of Paediatrics, University of Padova, Italy. elisabene@libero.it
Artifoni
Lina
L
Salviati
Leonardo
L
Pinello
Luisa
L
Perrotta
Silverio
S
Zuffardi
Orsetta
O
Zacchello
Graziella
G
Murer
Luisa
L
D002648:Child; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D003103:Coloboma; D005260:Female; D017353:Gene Deletion; D018628:Gene Dosage; D006801:Humans; D007621:Karyotyping; D007668:Kidney / Q000002:abnormalities*; D009900:Optic Nerve / Q000473:pathology*; D051762:PAX2 Transcription Factor / Q000235:genetics*
D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human