Copy number variants suggest different molecular pathways for the pathogenesis of bladder exstrophy

Abstract excerpt

Bladder exstrophy is a rare congenital malformation leaving the urinary bladder open in the midline of the abdomen at birth. There is a clear genetic background with chromosome aberrations, but so far, no consistent findings apart from 22q11-duplications detected in about 2%-3% of all patients. Some genes are implicated like the LZTR1, ISL1, CELSR3, and the WNT3 genes, but most are not explained molecularly. We...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital heart defects research
• Share to Epigenetics and DNA Methylation
• Share to Urological Disorders and Treatments