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Document type:
Zeitschriftenaufsatz 
Author(s):
Müller, Thomas; Rasool, Insha; Heinz-Erian, Peter; Mildenberger, Eva; Hülstrunk, Christian; Müller, Andreas; Michaud, Laurent; Koot, Bart G P; Ballauff, Antje; Vodopiutz, Julia; Rosipal, Stefan; Petersen, Britt-Sabina; Franke, Andre; Fuchs, Irene; Witt, Heiko; Zoller, Heinz; Janecke, Andreas R; Visweswariah, Sandhya S 
Title:
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C. 
Abstract:
Congenital sodium diarrhoea (CSD) refers to a form of secretory diarrhoea with intrauterine onset and high faecal losses of sodium without congenital malformations. The molecular basis for CSD remains unknown. We clinically characterised a cohort of infants with CSD and set out to identify disease-causing mutations by genome-wide genetic testing.We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmatory Sanger sequencing of the likel...    »
 
Journal title abbreviation:
Gut 
Year:
2016 
Journal volume:
65 
Journal issue:
Pages contribution:
1306-13 
Print-ISSN:
0017-5749 
TUM Institution:
Klinik für Ernährungsmedizin