Associated Papers
A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.
Yao W et al.
Molecular Genetics & Genomic Medicine, 2025
PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports.
Chang YM et al.
Frontiers in Pediatrics, 2021
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.
Zhang L et al.
Bmc Nephrology, 2018
Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome.
Galvez-Ruiz A et al.
Neuro-ophthalmology (aeolus Press), 2017
Discordant phenotype in monozygotic twins with renal coloboma syndrome and a PAX2 mutation.
Iatropoulos P et al.
Pediatric Nephrology (berlin, Germany), 2012
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 surviving case of papillorenal syndrome with the phenotype of Potter sequence.
Fujioka K et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
New ocular phenotype associated with a mutation in the PAX2 gene.
Beby F et al.
Eye (london, England), 2010
Papillorenal syndrome after Beta-interferon treatment in pregnancy.
Gucev ZS et al.
Renal Failure, 2009
A clinico-genetic study of renal coloboma syndrome in children.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2007
Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study.
Weber S et al.
Journal of the American Society of Nephrology : Jasn, 2006
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
De novo insG619 mutation in PAX2 gene in a Japanese patient with papillorenal syndrome.
Yoshimura K et al.
American Journal of Ophthalmology, 2005
Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.
Ford B et al.
American Journal of Medical Genetics, 2001
PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.
Amiel J et al.
European Journal of Human Genetics : Ejhg, 2000