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

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

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...

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Bibliographic Details
Main Authors: Hasret Ayyıldız Civan, Coleen Leitner, Iris Östreicher, Anna-Maria Schneider, Malte Cremer, Johannes A. Mayr, Rainer Rossi, Thomas Müller, Andreas R. Janecke
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Children
Subjects:
tufting enteropathy
EPCAM
mutation
novel mutations
parental nutrition
intra-familial variability
Online Access:https://www.mdpi.com/2227-9067/8/6/503

Internet

https://www.mdpi.com/2227-9067/8/6/503

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