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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Am Soc Nephrol
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: American Society of Nephrology 2017
Aiheet:
Brief Communications
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia