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
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
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
A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
Adam J et al.
Clinical Kidney Journal, 2013
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
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