Article
TNXB mutations can cause vesicoureteral reflux.
Journal of the American Society of Nephrology : JASN - 1 Jul 2013
Gbadegesin Rasheed A, Brophy Patrick D, Adeyemo Adebowale, Hall Gentzon, Gupta Indra R, Hains David, Bartkowiak Bartlomeij, Rabinovich C Egla, Chandrasekharappa Settara, Homstad Alison, Westreich Katherine, Wu Guanghong, Liu Yutao, Holanda Danniele, Clarke Jason, Lavin Peter, Selim Angelica, Miller Sara, Wiener John S, Ross Sherry S, Foreman John, Rotimi Charles, Winn Michelle P
Abstract excerpt
Primary vesicoureteral reflux (VUR) is the most common congenital anomaly of the kidney and the urinary tract, and it is a major risk factor for pyelonephritic scarring and CKD in children. Although twin studies support the heritability of VUR, specific genetic causes remain elusive. We performed a sequential genome-wide linkage study and whole-exome sequencing in a family with hereditary VUR. We obtained a...
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