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Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis

Gupta, Ashish*; Sanville, Julie*; Menz, Timothy*; Warner, Neil; Muise, Aleixo M.†,‡,§; Fiedler, Karoline; Martín, Martín G.||; Padbury, James*; Phornphutkul, Chanika*; Sanchez-Esteban, Juan*; Cerezo, Carolina S.*

Journal of Pediatric Gastroenterology and Nutrition: June 2019 - Volume 68 - Issue 6 - p e106–e108
doi: 10.1097/MPG.0000000000002258
Case Report

*Brown University, Providence, RI

Cell Biology Program, Research Institute, Hospital for Sick Children

Departments of Biochemistry, Paediatrics, and Institute of Medical Science, University of Toronto

§SickKids Inflammatory Bowel Disease Center and Division of Gastroenterology, Hepatology, and Nutrition, Hospital for Sick Children, Toronto, ON, Canada

||Department of Pediatrics, Division of Gastroenterology and Nutrition, Mattel Children's Hospital and the David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.

Address correspondence and reprint requests to Ashish Gupta, MD, FAAP, Brown University, 101 Dudley St, Providence, RI 02905 (e-mail

Received 1 August, 2018

Accepted 12 December, 2018

Supplemental digital content is available for this article. Direct URL citations appear in the printed text, and links to the digital files are provided in the HTML text of this article on the journal's Web site (

The authors report no conflicts of interest.

© 2019 by European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology,