Article

Genotype-phenotype analysis in patients with PAX2 mutations: beyond renal coloboma syndrome

2023-06-13

Abstract excerpt

PAX2 -related disorders encompass renal coloboma syndrome (RCS) and hereditary focal segmental glomerulosclerosis (FSGS)type 7. In this multicenter study on patients with PAX2 mutations, we explored genotype-phenotype correlations regarding kidney and ocular involvement and long-term clinical outcomes. Among 27 patients with PAX2 mutations detected from 2004–2022, 19 had RCS, 4 had FSGS, and 4 had isolated congeni...

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Literature Corpus work: 30a268bc-101a-5552-9989-bef290d65a4b
DOI: 10.21203/rs.3.rs-3028260/v1

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