Article
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.
Gut - 1 Aug 2016
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
Abstract excerpt
OBJECTIVE: 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. DESIGN: We performed whole-exome sequencing and...
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