Disease: Papillorenal syndrome
- A case of renal coloboma syndrome
- A family of renal coloboma syndrome
- A novel <em>PAX2</em> heterozygous mutation in a family with Papillorenal syndrome: A case report and review of the literature
- Bim Expression Modulates Branching Morphogenesis of the Epithelium and Endothelium
- De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity
- Genetic analysis of a patient with Papillorenal syndrome due to variant of PAX2 gene
- Minor dysmorphic features in a patient with papillorenal syndrome: A Case Report
- New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report
- Ocular manifestations of renal ciliopathies
- Ocular phenotype in a patient with <em>PAX2</em> gene mutation-associated papillorenal syndrome
- Ocular phenotype in a patient with PAX2 gene mutation-associated papillorenal syndrome
- Papillorenal syndrome with extensive retinoschisis
- Papillorenal syndrome: a systemic diagnosis not to be missed on funduscopy
- PAX2 and CAKUT Phenotypes: Report on Two New Variants and a Review of Mutations from the Leiden Open Variation Database
- PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability
- Phenotypes and genotypes underlying paradoxical pupillary reaction in children
- Renal Coloboma Syndrome-An Autosomal Dominant Genetic Disorder
- Vitrectomy for Retinoschisis in Papillorenal Syndrome Related to PAX2 Mutation