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
The Role of PAX2 in Neurodevelopment and Disease.
Lv N et al.
Neuropsychiatric Disease and Treatment, 2021
PAX2 Mutation-Related Renal Hypodysplasia: Review of the Literature and Three Case Reports.
Chang YM et al.
Frontiers in Pediatrics, 2021
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
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