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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Vydáno v:J Am Soc Nephrol
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society of Nephrology 2017
Témata:
Brief Communications
On-line přístup: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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