Ontology highlight
ABSTRACT:
SUBMITTER: Vogel GF
PROVIDER: S-EPMC4733813 | biostudies-other | 2016 Dec
REPOSITORIES: biostudies-other
Vogel Georg F GF Hess Michael W MW Pfaller Kristian K Huber Lukas A LA Janecke Andreas R AR Müller Thomas T
Molecular and cellular pediatrics 20160129 1
Microvillus inclusion disease (MVID) is characterised by onset of intractable life-threatening watery diarrhoea during infancy. Transmission electron microscopy demonstrates shortening or absence of apical microvilli, pathognomonic microvillus inclusions in mature enterocytes and subapical accumulation of periodic acid-Schiff-positive granules or vesicles confirming diagnosis. Mutations in MYO5B have been found to cause MVID. In two patients with MVID, whole-exome sequencing of DNA revealed homo ...[more]