Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of...
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
About this item
Full title
Author / Creator
Hwang, Daw-Yang , Kohl, Stefan , Fan, Xueping , Vivante, Asaf , Chan, Stefanie , Dworschak, Gabriel C. , Schulz, Julian , van Eerde, Albertien M. , Hilger, Alina C. , Gee, Heon Yung , Pennimpede, Tracie , Herrmann, Bernhard G. , van de Hoek, Glenn , Renkema, Kirsten Y. , Schell, Christoph , Huber, Tobias B. , Reutter, Heiko M. , Soliman, Neveen A. , Stajic, Natasa , Bogdanovic, Radovan , Kehinde, Elijah O. , Lifton, Richard P. , Tasic, Velibor , Lu, Weining and Hildebrandt, Friedhelm
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title
Language
English
Formats
Publication information
Publisher
Berlin/Heidelberg: Springer Berlin Heidelberg
Subjects
More information
Scope and Contents
Contents
Congenital anomalies of the kidney and urinary tract (CAKUT) account for 40–50 % of chronic kidney disease that manifests in the first two decades of life. Thus far, 31 monogenic causes of isolated CAKUT have been described, explaining ~12 % of cases. To identify additional CAKUT-causing genes, we performed whole-exome sequencing followed by a gene...
Alternative Titles
Full title
Mutations of the SLIT2–ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract
Authors, Artists and Contributors
Author / Creator
Kohl, Stefan
Fan, Xueping
Vivante, Asaf
Chan, Stefanie
Dworschak, Gabriel C.
Schulz, Julian
van Eerde, Albertien M.
Hilger, Alina C.
Gee, Heon Yung
Pennimpede, Tracie
Herrmann, Bernhard G.
van de Hoek, Glenn
Renkema, Kirsten Y.
Schell, Christoph
Huber, Tobias B.
Reutter, Heiko M.
Soliman, Neveen A.
Stajic, Natasa
Bogdanovic, Radovan
Kehinde, Elijah O.
Lifton, Richard P.
Tasic, Velibor
Lu, Weining
Hildebrandt, Friedhelm
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4497857
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4497857
Other Identifiers
ISSN
0340-6717
E-ISSN
1432-1203
DOI
10.1007/s00439-015-1570-5
