Article
Copy-number variation associated with congenital anomalies of the kidney and urinary tract.
Pediatric nephrology (Berlin, Germany) - 1 Mar 2015
Caruana Georgina, Wong Milagros N, Walker Amanda, Heloury Yves, Webb Nathalie, Johnstone Lilian, James Paul A, Burgess Trent, Bertram John F
Abstract excerpt
BACKGROUND: The most common cause of end-stage renal disease in children can be attributed to congenital anomalies of the kidney and urinary tract (CAKUT). Despite this high incidence of disease, the genetic mutations responsible for the majority of CAKUT cases remain unknown. METHODS: To identify novel genomic regions associated with CAKUT, we screened 178 children presenting with the entire spectrum of...
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