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
Whole genome sequence analysis identifies a PAX2 mutation to establish a correct diagnosis for a syndromic form of hyperuricemia.
Stevenson M et al.
American Journal of Medical Genetics. Part A, 2020
Papillorenal syndrome in a family with unusual complications.
Megaw RD et al.
The British Journal of Ophthalmology, 2013
Select a paper to view details