Associated Papers
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
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
Identification of candidate PAX2-regulated genes implicated in human kidney development.
Yamamura Y et al.
Scientific Reports, 2021
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
New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.
Zhang L et al.
Bmc Nephrology, 2018
Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations.
Sanna-Cherchi S et al.
American Journal of Human Genetics, 2017
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.
Okumura T et al.
Plos One, 2015
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