title: Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.
authors.affiliation: 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 Department of Pediatrics II, Innsbruck Medical University, Innsbruck, Austria.
authors.forename: Mamata
authors.initials: M
authors.lastname: Sivagnanam
authors.forename: Andreas R
authors.initials: AR
authors.lastname: Janecke
authors.forename: Thomas
authors.initials: T
authors.lastname: Müller
authors.forename: Peter
authors.initials: P
authors.lastname: Heinz-Erian
authors.forename: Sharon
authors.initials: S
authors.lastname: Taylor
authors.forename: Lynne M
authors.initials: LM
authors.lastname: Bird
mesh_terms: D002648:Child; D002754:Choanal Atresia / Q000175:diagnosis; D003315:Cornea / Q000002:abnormalities; D004252:DNA Mutational Analysis; D003967:Diarrhea / Q000151:congenital* / Q000235:genetics*; D004848:Epithelium / Q000473:pathology; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007410:Intestinal Diseases / Q000175:diagnosis* / Q000235:genetics*; D008286:Malabsorption Syndromes / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D013577:Syndrome
chemical_list: D008562:Membrane Glycoproteins; C109148:SPINT2 protein, human