Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
Expanded Phenotype of PAX2-Related Papillorenal Syndrome: A Case Featuring FSGS, Atypical Retinopathy, Cerebellar Hypoplasia, and ADHD.
Sultana N et al.
Clinical Case Reports, 2026
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
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations.
Kim JH et al.
European Journal of Human Genetics : Ejhg, 2025
Frameshift Mutation in PAX2 Related to Focal Segmental Glomerular Sclerosis: A Case Report and Literature Review.
Hu X et al.
Molecular Genetics & Genomic Medicine, 2024
Diagnostic Yield and Benefits of Whole Exome Sequencing in CAKUT Patients Diagnosed in the First Thousand Days of Life.
Werfel L et al.
Kidney International Reports, 2023
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X et al.
Bmc Medical Genomics, 2021
The Role of PAX2 in Neurodevelopment and Disease.
Lv N et al.
Neuropsychiatric Disease and Treatment, 2021
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R et al.
Journal of Human Genetics, 2020
Diverse phenotypes in children with PAX2-related disorder.
Deng H et al.
Molecular Genetics & Genomic Medicine, 2019
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.
Bekheirnia MR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
Renal coloboma syndrome.
Schimmenti LA
European Journal of Human Genetics : Ejhg, 2011
Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.
Bower M et al.
European Journal of Human Genetics : Ejhg, 2011