Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.

Mamata Sivagnanam, Andreas R. Janecke, Thomas Müller, Peter Heinz-Erian, Sharon Taylor and Lynne M. Bird, Divisions of Pediatric Gastroenterology, Hepatology and Nutrition, Dysmorphology and Genetics, Department of Pediatrics, University of California, Rady Children’s Hospital, San Diego, California, USA, Division of Clinical Genetics and Department of Pediatrics II, Innsbruck Medical University, Innsbruck, Austria

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