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Article

PAX2/Renal Coloboma Syndrome Expresses Extreme Intrafamilial Phenotypic Variability.

Nephron - 1 Jan 2023

Giovanella Silvia, Pasini Andrea, Ligabue Giulia, Testa Francesca, Mori Giacomo, Tagliafico Enrico, Magistroni Riccardo

Abstract excerpt

Renal coloboma syndrome (RCS) is a disease characterized by kidney and ocular anomalies (kidney hypodysplasia and coloboma). RCS is caused, in half of the cases, by mutations in the paired box 2 (PAX2) gene, a critical organogenesis transcriptional factor. We report the case of a newborn with kidney hypodysplasia in a negative parental context where mother and father were phenotypically unaffected at the initial...

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Identifiers

PMID: 35790137
DOI: 10.1159/000525022

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