Associated Papers
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.
Bower M et al.
European Journal of Human Genetics : Ejhg, 2011
A clinico-genetic study of renal coloboma syndrome in children.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2007
Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.
Fletcher J et al.
Journal of the American Society of Nephrology : Jasn, 2005
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Amiel J et al.
European Journal of Human Genetics : Ejhg, 2000
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