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Keywords: Enteropathy
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Journal Articles
Journal: Development
Development (2023) 150 (17): dev201801.
Published: 31 August 2023
...Roman Szabo; Makiko Kawaguchi; Hiroaki Kataoka; Thomas H. Bugge ABSTRACT Congenital tufting enteropathy (CTE) is a life-threatening intestinal disorder resulting from loss-of-function mutations in EPCAM and SPINT2 . Mice deficient in Spint2 , encoding the protease inhibitor HAI-2, develop CTE-like...
Includes: Supplementary data
Journal Articles
Journal: Development
Development (2019) 146 (22): dev183392.
Published: 18 November 2019
...Roman Szabo; LuLu K. Callies; Thomas H. Bugge ABSTRACT Syndromic congenital tufting enteropathy (CTE) is a life-threatening recessive human genetic disorder that is caused by mutations in SPINT2 , encoding the protease inhibitor HAI-2, and is characterized by severe intestinal dysfunction. We...
Includes: Supplementary data