Ontology highlight
ABSTRACT:
SUBMITTER: Vivante A
PROVIDER: S-EPMC5198271 | biostudies-literature | 2017 Jan
REPOSITORIES: biostudies-literature
Vivante Asaf A Hwang Daw-Yang DY Kohl Stefan S Chen Jing J Shril Shirlee S Schulz Julian J van der Ven Amelie A Daouk Ghaleb G Soliman Neveen A NA Kumar Aravind Selvin AS Senguttuvan Prabha P Kehinde Elijah O EO Tasic Velibor V Hildebrandt Friedhelm F
Journal of the American Society of Nephrology : JASN 20160505 1
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuring a broad variety of malformations. A monogenic cause can be detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be examined. To determine the likelihood of detecting causative recessive mutations by whole-exome sequencing (WES), we analyzed individuals with CAKUT from 33 different consanguineous famili ...[more]