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
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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