Associated Papers
Presentation of Patients With Congenital Anomalies of the Kidney and Urinary Tract and PAX2 Loss-of-Function Variants and Implications for Clinical Management.
Greipel L et al.
Kidney International Reports, 2025
Variable Phenotypic Expression of PAX2 Variants in Two Lithuanian Families with Kidney Disease.
Brazdziunaite D et al.
Medicina (kaunas, Lithuania), 2025
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease.
Claus LR et al.
Kidney International Reports, 2024
39291214 (PubMed )
Supplement: mmc1.xlsx › S2c._Multiple_occurences
Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort study.
Liu JL et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2022
36549658 (PubMed )
Supplement: gfac338_supplemental_file.pdf
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.
Madariaga L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
A clinico-genetic study of renal coloboma syndrome in children.
Cheong HI et al.
Pediatric Nephrology (berlin, Germany), 2007
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