Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract

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...

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Veröffentlicht in:J Am Soc Nephrol
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society of Nephrology 2017
Schlagworte:
Brief Communications
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5198271/
https://ncbi.nlm.nih.gov/pubmed/27151922
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1681/ASN.2015080962
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