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Article

Genetic analysis of two bladder exstrophy populations of South Asian and North American origin.

Journal of pediatric urology - 1 Dec 2025

Weaver John K, Weiss Dana A, Thompson Austin, Joshi Rakesh, Ramji Jaishri, Shukla Aseem R, D'Souza Neeta, Kim Erin, Lee Joonsue, Wu Chen-Han Wilfred, Broms Reiley, Glessner Joseph, Mentch Frank, Hakonarson Hakon, Pyle Louise C

Abstract excerpt

INTRODUCTION: Bladder exstrophy-epispadias complex (BEEC) is a devastating congenital anomaly of the urinary tract and is associated with an increased risk of bladder cancer. The etiology of the BEEC is unknown, but a clear genetic component has been highlighted. Currently, all genetic studies suffer from small populations, limited to a European background. OBJECTIVES: To identify copy number variations (CNVs) in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 40340191
DOI: 10.1016/j.jpurol.2025.04.018
PMCID: PMC12912261

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