Associated Papers
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.
Kim JH et al.
European Journal of Human Genetics : Ejhg, 2025
39994403 (PubMed )
Supplement: 41431_2025_1822_MOESM1_ESM.pdf
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.
Hu X et al.
Molecular Genetics & Genomic Medicine, 2024
A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.
Li S et al.
Plos One, 2024
PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.
Muntean C et al.
International Journal of Molecular Sciences, 2023
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
A novel truncating PAX2 mutation in a boy with renal coloboma syndrome with focal segmental glomerulosclerosis causing rapid progression to end-stage kidney disease.
Saida K et al.
Cen Case Reports, 2020
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
Vivante A et al.
Pediatric Nephrology (berlin, Germany), 2019
Developmental Causes of Focal Segmental Glomerulosclerosis.
Klomp LS et al.
Glomerular Diseases, 0
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