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
Exome-First Strategy in Adult Patients With CKD: A Cohort Study.
Doreille A et al.
Kidney International Reports, 2023
36938085 (PubMed )
Supplement: mmc3.xlsx › Sheet1
Detection of De Novo PAX2 Variants and Phenotypes in Chinese Population: A Single-Center Study.
Xiong HY et al.
Frontiers in Genetics, 2022
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
An accessible insight into genetic findings for transplantation recipients with suspected genetic kidney disease.
Wang Z et al.
Npj Genomic Medicine, 2021
Rethinking genotype-phenotype correlations in papillorenal syndrome: a case report on an unusual congenital camptodactyly and skeletal deformity with a heterogeneous PAX2 mutation of hexanucleotide duplication.
Liu J et al.
Gene, 2018
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
Renal malformations associated with mutations of developmental genes: messages from the clinic.
Adalat S et al.
Pediatric Nephrology (berlin, Germany), 2010
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