Article
Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract.
Journal of the American Society of Nephrology : JASN - 1 Jan 2017
Vivante Asaf, Hwang Daw-Yang, Kohl Stefan, Chen Jing, Shril Shirlee, Schulz Julian, van der Ven Amelie, Daouk Ghaleb, Soliman Neveen A, Kumar Aravind Selvin, Senguttuvan Prabha, Kehinde Elijah O, Tasic Velibor, Hildebrandt Friedhelm
Abstract excerpt
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...
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