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Last Updated: 01/07/2026

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Found 114 publications

Ocular clues to a renal diagnosis: classic imaging in renal coloboma syndrome.

Ocular clues to a renal diagnosis: classic imaging in renal coloboma syndrome.

Journal: Journal of nephrology
Published: August 26, 2025

C3 Glomerulonephritis in a Child with Renal Coloboma Syndrome.

C3 Glomerulonephritis in a Child with Renal Coloboma Syndrome.

Journal: Indian journal of pediatrics
Published: July 29, 2025

Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management.

Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management.

Journal: Kidney international reports
Published: June 06, 2025

Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report.

Amniotic membrane placement without endotamponade for optic nerve coloboma with extensive serous retinal detachment in papillorenal syndrome: A case report.

Journal: American journal of ophthalmology case reports
Published: May 10, 2025

Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.

Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.

Journal: European journal of medical research
Published: February 18, 2025

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.

Journal: Medicina (Kaunas, Lithuania)
Published: February 07, 2025

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.

'No causative variants found': an unusual presentation of PAX2-related disorder not detected on rapid whole exome sequencing testing.

Journal: BMJ case reports
Published: January 22, 2025

Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.

Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.

Journal: European journal of human genetics : EJHG
Published: August 17, 2024

Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations.

Family Planning in Genetic Optic Atrophies in Israel, a Case Series and a Discussion of Ethical Considerations.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society
Published: July 31, 2024

Choroidal neovascularization complicating papillorenal (renal coloboma) syndrome.

Choroidal neovascularization complicating papillorenal (renal coloboma) syndrome.

Journal: Journal francais d'ophtalmologie
Published: July 30, 2024

Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.

Journal: Molecular genetics & genomic medicine
Published: March 01, 2024

Developmental Causes of Focal Segmental Glomerulosclerosis.

Developmental Causes of Focal Segmental Glomerulosclerosis.

Journal: Glomerular diseases
Published: January 18, 2024
Showing 1-12 of 114

Last Updated: 01/07/2026