Exome Sequencing Discerns Syndromes in Patients from Consanguineous Families with Congenital Anomalies of the Kidneys and Urinary Tract-Reference-Cited by-同舟云学术

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

Published:2016-05-05 Issue:1 Volume:28 Page:69-75
ISSN:1046-6673
Container-title:Journal of the American Society of Nephrology
language:en
Short-container-title:JASN

Author:

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

Publisher

American Society of Nephrology (ASN)

Subject

Nephrology,General Medicine

Reference35 articles.

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2. Single-gene causes of congenital anomalies of the kidney and urinary tract (CAKUT) in humans

3. Pattern of clinical presentation of congenital anomalies of the kidney and urinary tract among infants and children

4. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

5. Mild Recessive Mutations in Six Fraser Syndrome–Related Genes Cause Isolated Congenital Anomalies of the Kidney and Urinary Tract

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