Mamata Sivagnanam Andreas R Janecke Thomas Müller Peter Heinz-Erian Sharon Taylor Lynne M Bird
10.1097/MCD.0b013e328331de38
Clin Dysmorphol
2010 Jan;19(1):48.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/20009592/
Diarrhea / congenital Diarrhea / genetics Intestinal Diseases / diagnosis Intestinal Diseases / genetics Malabsorption Syndromes / diagnosis Malabsorption Syndromes / genetics Membrane Glycoproteins / genetics
Diarrhea / congenital Diarrhea / genetics Intestinal Diseases / diagnosis Intestinal Diseases / genetics Malabsorption Syndromes / diagnosis Malabsorption Syndromes / genetics Membrane Glycoproteins / genetics Case Reports Letter Research Support, Non-U.S. Gov't Child Choanal Atresia / diagnosis Cornea / abnormalities DNA Mutational Analysis Epithelium / pathology Hair / abnormalities Humans Male Syndrome Membrane Glycoproteins SPINT2 protein, human
PMC6709868
20009592
Case of syndromic tufting enteropathy harbors SPINT2 mutation seen in congenital sodium diarrhea
2010