title: Renal hypoplasia without optic coloboma associated with PAX2 gene deletion.
authors.affiliation: Nephrology, Dialysis and Transplant Unit, Laboratory of Paediatric Nephrology, Clinical Genetics and Epidemiology Service, Department of Paediatrics, University of Padova, Italy. elisabene@libero.it
authors.forename: Elisa
authors.initials: E
authors.lastname: Benetti
authors.forename: Lina
authors.initials: L
authors.lastname: Artifoni
authors.forename: Leonardo
authors.initials: L
authors.lastname: Salviati
authors.forename: Luisa
authors.initials: L
authors.lastname: Pinello
authors.forename: Silverio
authors.initials: S
authors.lastname: Perrotta
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Graziella
authors.initials: G
authors.lastname: Zacchello
authors.forename: Luisa
authors.initials: L
authors.lastname: Murer
mesh_terms: 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*
chemical_list: D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human