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
PAX2 Gene Mutation in Pediatric Renal Disorders-A Narrative Review.
Muntean C et al.
International Journal of Molecular Sciences, 2023
Concordant nephrotic syndrome in twins with PAX2 and MYO1E mutations.
Grossman OK et al.
Clinical Nephrology. Case Studies, 2022
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
Variability in Gene Expression is Associated with Incomplete Penetrance in Inherited Eye Disorders.
Green DJ et al.
Genes, 2020
32050448 (PubMed )
Supplement: genes-11-00179-s001.zip › Supplementary_File_3.xlsx › gnomAD_overlap_autosomal
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
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Mutations in PAX2 associate with adult-onset FSGS.
Barua M et al.
Journal of the American Society of Nephrology : Jasn, 2014
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
Renal coloboma syndrome.
Schimmenti LA
European Journal of Human Genetics : Ejhg, 2011
Developmental Causes of Focal Segmental Glomerulosclerosis.
Klomp LS et al.
Glomerular Diseases, 0
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