<p>We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. Among these malformations, RHD represents a severe forms of disease with profound impact on long-term renal survival. We found that a significant fraction of RHD patients have a molecular diagnosis attributable to a genomic disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.</p>

Copy Number Variation in Congenital Kidney Malformations

12 variables across Demographics, Disease Events, Race and Ethnicity

Copy Number Variation in Congenital Kidney Malformations

Demographics (1)

Disease Events (1)

Race and Ethnicity (1)

Other (9)