Article
Rare variants in tenascin genes in a cohort of children with primary vesicoureteric reflux.
Pediatric nephrology (Berlin, Germany) - 1 Feb 2016
Elahi Shan, Homstad Alison, Vaidya Himani, Stout Jennifer, Hall Gentzon, Wu Guanghong, Conlon Peter, Routh Jonathan C, Wiener John S, Ross Sherry S, Nagaraj Shashi, Wigfall Delbert, Foreman John, Adeyemo Adebowale, Gupta Indra R, Brophy Patrick D, Rabinovich C Egla, Gbadegesin Rasheed A
Abstract excerpt
BACKGROUND: Primary vesicoureteral reflux (PVUR) is the most common malformation of the kidney and urinary tract, and reflux nephropathy is a major cause of chronic kidney disease in children. Recently, we reported mutations in the tenascin XB gene (TNXB) as a cause of PVUR with joint hypermobility. METHODS: To define the role of rare variants in tenascin genes in the etiology of PVUR, we screened a cohort of...
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