• 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
• Developmental Causes of Focal Segmental Glomerulosclerosis
• Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations
• 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
• Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1
• Vitrectomy for Retinoschisis in Papillorenal Syndrome Related to PAX2 Mutation