Ontology highlight
ABSTRACT:
SUBMITTER: Lu W
PROVIDER: S-EPMC1852714 | biostudies-literature | 2007 Apr
REPOSITORIES: biostudies-literature
Lu Weining W van Eerde Albertien M AM Fan Xueping X Quintero-Rivera Fabiola F Kulkarni Shashikant S Ferguson Heather H Kim Hyung-Goo HG Fan Yanli Y Xi Qiongchao Q Li Qing-Gang QG Sanlaville Damien D Andrews William W Sundaresan Vasi V Bi Weimin W Yan Jiong J Giltay Jacques C JC Wijmenga Cisca C de Jong Tom P V M TP Feather Sally A SA Woolf Adrian S AS Rao Yi Y Lupski James R JR Eccles Michael R MR Quade Bradley J BJ Gusella James F JF Morton Cynthia C CC Maas Richard L RL
American journal of human genetics 20070214 4
Congenital anomalies of the kidney and urinary tract (CAKUT) include vesicoureteral reflux (VUR). VUR is a complex, genetically heterogeneous developmental disorder characterized by the retrograde flow of urine from the bladder into the ureter and is associated with reflux nephropathy, the cause of 15% of end-stage renal disease in children and young adults. We investigated a man with a de novo translocation, 46,X,t(Y;3)(p11;p12)dn, who exhibits multiple congenital abnormalities, including sever ...[more]