Review
Open access
Jan 2026
A Novel Pathogenic Variant in PAX2‐Related Renal Coloboma Syndrome Identified by Prenatal Diagnosis: A Case Report and Literature Review
The present case identified a previously unreported pathogenic variant in the PAX2 gene, thereby expanding the mutational spectrum of PAX2‐related RCS, and underscores the phenotypic heterogeneity of this disorder, even among members of the same family.
G. Wang, Jie Wang, Lichun Zhang et al.
· Case Reports in Obstetrics a... · 0 citations