Three Novel <i>EPCAM</i> Variants Causing Tufting Enteropathy in Three Families

• Main Authors: Hasret Ayyıldız Civan (Author), Coleen Leitner (Author), Iris Östreicher (Author), Anna-Maria Schneider (Author), Malte Cremer (Author), Johannes A. Mayr (Author), Rainer Rossi (Author), Thomas Müller (Author), Andreas R. Janecke (Author)
• Format: Book
• Published: MDPI AG, 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Tufting enteropathy (TE) is caused by recessive <i>EPCAM</i> mutations, and is characterized by intractable diarrhea of congenital onset and disorganization of enterocytes. TE generally requires parenteral nutrition (PN) during childhood or intestinal bowel transplantation. We report thr...