Ontology highlight
ABSTRACT:
SUBMITTER: Muller T
PROVIDER: S-EPMC4975829 | biostudies-literature | 2016 Aug
REPOSITORIES: biostudies-literature
Müller Thomas T Rasool Insha I Heinz-Erian Peter P Mildenberger Eva E Hülstrunk Christian C Müller Andreas A Michaud Laurent L Koot Bart G P BG Ballauff Antje A Vodopiutz Julia J Rosipal Stefan S Petersen Britt-Sabina BS Franke Andre A Fuchs Irene I Witt Heiko H Zoller Heinz H Janecke Andreas R AR Visweswariah Sandhya S SS
Gut 20150520 8
<h4>Objective</h4>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.<h4>Design</h4>We performed whole-exome sequencing and chromosomal microarray analyses in 4 unrelated patients, followed by confirmato ...[more]