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
41278353 (PubMed )
Supplement: mmc2.xlsx › Tabelle2
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
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
39225089 (PubMed )
Supplement: jci-134-178573-s021.xlsx › Supp_Table_2
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
34696790 (PubMed )
Supplement: 12920_2021_1102_MOESM1_ESM.pdf
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.
Oh SH et al.
Annals of Clinical and Laboratory Science, 2020
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R et al.
Journal of Human Genetics, 2020
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