Article
Identification of EpCAM as the gene for congenital tufting enteropathy.
Gastroenterology - 1 Aug 2008
Sivagnanam Mamata, Mueller James L, Lee Hane, Chen Zugen, Nelson Stanley F, Turner Dan, Zlotkin Stanley H, Pencharz Paul B, Ngan Bo-Yee, Libiger Ondrej, Schork Nicholas J, Lavine Joel E, Taylor Sharon, Newbury Robert O, Kolodner Richard D, Hoffman Hal M
Abstract excerpt
BACKGROUND & AIMS: Congenital tufting enteropathy (CTE) is a rare autosomal recessive diarrheal disorder presenting in the neonatal period. CTE is characterized by intestinal epithelial cell dysplasia leading to severe malabsorption and significant morbidity and mortality. The pathogenesis and ge...
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