Ontology highlight
ABSTRACT:
SUBMITTER: Sivagnanam M
PROVIDER: S-EPMC3444051 | biostudies-literature | 2012
REPOSITORIES: biostudies-literature
Case reports in medicine 20120909
Congenital tufting enteropathy (CTE) is a rare autosomal recessive diarrheal disorder where epithelial tufts can be present from the duodenum to the large intestine. CTE has been linked to mutations in the epithelial cell adhesion molecule gene (EpCAM) Sivagnanam et al. (2008). We recently reported the first case with a nonsense mutation in EpCAM Sivagnanam et al. (2010). Here, we explored the clinical and molecular effects of enterally administered gentamicin in this CTE patient. Altogether, ou ...[more]