Article
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology - 1 Mar 2012
Van Der Werf Christine S, Wabbersen Tara D, Hsiao Nai-Hua, Paredes Joana, Etchevers Heather C, Kroisel Peter M, Tibboel Dick, Babarit Candice, Schreiber Richard A, Hoffenberg Edward J, Vekemans Michel, Zeder Sirkka L, Ceccherini Isabella, Lyonnet Stanislas, Ribeiro Ana S, Seruca Raquel, Te Meerman Gerard J, van Ijzendoorn Sven C D, Shepherd Iain T, Verheij Joke B G M, Hofstra Robert M W
Abstract excerpt
BACKGROUND & AIMS: Short-bowel syndrome usually results from surgical resection of the small intestine for diseases such as intestinal atresias, volvulus, and necrotizing enterocolitis. Patients with congenital short-bowel syndrome (CSBS) are born with a substantial shortening of the small intestine, to a mean length of 50 cm, compared with a normal length at birth of 190-280 cm. They also are born with...
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