Associated Papers
Genotype-phenotype correlations and functional characterization of novel PAX2 variants in a 10-patient pediatric cohort.
Fu M et al.
Renal Failure, 2025
Characterization of Monogenic Kidney Disease in Older Patients With CKD.
Elhassan EAE et al.
Kidney International Reports, 2025
40677324 (PubMed )
Supplement: mmc1.pdf
Clinical spectrum, genetics and management insights of PAX2-related disorder in nine children.
Min J et al.
European Journal of Medical Research, 2025
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
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 › S2a._Diagnostic_cohort
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R et al.
Journal of Human Genetics, 2020
Monogenic causes of chronic kidney disease in adults.
Connaughton DM et al.
Kidney International, 2019
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