Ontology highlight
ABSTRACT:
SUBMITTER: Schlegel C
PROVIDER: S-EPMC5797493 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Schlegel Cameron C Weis Victoria G VG Knowles Byron C BC Lapierre Lynne A LA Martin Martin G MG Dickman Paul P Goldenring James R JR Shub Mitchell D MD
Digestive diseases and sciences 20171207 2
<h4>Objectives</h4>Microvillus inclusion disease (MVID) is a severe form of neonatal diarrhea, caused mainly by mutations in MYO5B. Inactivating mutations in MYO5B causes depolarization of enterocytes in the small intestine, which gives rise to chronic, unremitting secretory diarrhea. While the pathology of the small intestine in MVID patients is well described, little is known about extraintestinal effects of MYO5B mutation.<h4>Methods</h4>We examined stomach, liver, pancreas, colon, and kidney ...[more]