Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
A Novel Synonymous Variant of PAX2 in Monochorionic Diamniotic Twins With Bilateral Renal Agenesis: A Case Report and Literature Review.
Yao W et al.
Molecular Genetics & Genomic Medicine, 2025
The Role of PAX2 in Neurodevelopment and Disease.
Lv N et al.
Neuropsychiatric Disease and Treatment, 2021
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Sheppard S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage
Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.
Bower M et al.
Human Mutation, 2012
Renal coloboma syndrome.
Schimmenti LA
European Journal of Human Genetics : Ejhg, 2011
PAX2 mutations in fetal renal hypodysplasia.
Martinovic-Bouriel J et al.
American Journal of Medical Genetics. Part A, 2010
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