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Last Updated: 10/31/2025
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Found 112 publications
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.
Journal: Indian journal of pediatrics
Published: July 29, 2025
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.
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.
Journal: BMJ case reports
Published: January 22, 2025
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.
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.
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.
Journal: Molecular genetics & genomic medicine
Published: March 01, 2024
Developmental Causes of Focal Segmental Glomerulosclerosis.
Journal: Glomerular diseases
Published: January 18, 2024
Renal coloboma syndrome/dominant optic atrophy with severe retinal atrophy and de novo digenic mutations in PAX2 and OPA1.
Journal: Pediatric nephrology (Berlin, Germany)
Published: December 22, 2023
Papillorenal syndrome with extensive retinoschisis.
Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
Published: July 22, 2023
Last Updated: 10/31/2025