Renal hypoplasia without optic coloboma associated with PAX2 gene deletion

Nephrol Dial Transplant. 2007 Jul;22(7):2076-8. doi: 10.1093/ndt/gfm187. Epub 2007 Apr 1.

Authors

Elisa Benetti¹, Lina Artifoni, Leonardo Salviati, Luisa Pinello, Silverio Perrotta, Orsetta Zuffardi, Graziella Zacchello, Luisa Murer

Affiliation

¹ Nephrology, Dialysis and Transplant Unit, Laboratory of Paediatric Nephrology, Clinical Genetics and Epidemiology Service, Department of Paediatrics, University of Padova, Italy. [email protected]

PMID: 17403695
DOI: 10.1093/ndt/gfm187

No abstract available

MeSH terms

Child
Chromosomes, Human, Pair 10 / genetics
Coloboma
Female
Gene Deletion*
Gene Dosage
Humans
Karyotyping
Kidney / abnormalities*
Optic Nerve / pathology*
PAX2 Transcription Factor / genetics*

Substances

PAX2 Transcription Factor
PAX2 protein, human