Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea.
Sivagnanam
Mamata
M
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.
Janecke
Andreas R
AR
Müller
Thomas
T
Heinz-Erian
Peter
P
Taylor
Sharon
S
Bird
Lynne M
LM
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
D008562:Membrane Glycoproteins; C109148:SPINT2 protein, human