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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Detalhes bibliográficos
Publicado no:J Am Soc Nephrol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Nephrology 2017
Assuntos:
Brief Communications
Acesso em linha: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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