Syndromic congenital diarrhea because of the SPINT2 mutation showing enterocyte tufting and unique electron microscopy findings

Clin Dysmorphol. 2013 Jul;22(3):118-120. doi: 10.1097/MCD.0b013e328361d42f.

Authors

Mordechai A Slae¹, Michael Saginur, Rabin Persad, Jason Yap, Atilano Lacson, Julie Salomon, Danielle Canioni, Hien Q Huynh

Affiliation

¹ Department of Pediatrics, Division of Pediatric Gastroenterology and Nutrition Department of Laboratory Medicine and Pathology, Stollery Children's Hospital, University of Alberta, Edmonton, Alberta, Canada Departments of Genetics Pediatric Gastroenterology, Hepatology and Nutrition Pathology, Necker-Enfants Malades Hospital, Paris Descartes University, Paris, France.

PMID: 23689399
DOI: 10.1097/MCD.0b013e328361d42f

No abstract available

Publication types

Case Reports

MeSH terms

Antigens, Neoplasm / genetics
Cell Adhesion Molecules / genetics
Diarrhea / congenital*
Diarrhea / genetics*
Enterocytes
Epithelial Cell Adhesion Molecule
Humans
Infant
Male
Membrane Glycoproteins / genetics*
Microscopy, Electron

Substances

Antigens, Neoplasm
Cell Adhesion Molecules
EPCAM protein, human
Epithelial Cell Adhesion Molecule
Membrane Glycoproteins
SPINT2 protein, human