Article
Loss of syntaxin 3 causes variant microvillus inclusion disease.
Gastroenterology - 1 Jul 2014
Wiegerinck Caroline L, Janecke Andreas R, Schneeberger Kerstin, Vogel Georg F, van Haaften-Visser Désirée Y, Escher Johanna C, Adam Rüdiger, Thöni Cornelia E, Pfaller Kristian, Jordan Alexander J, Weis Cleo-Aron, Nijman Isaac J, Monroe Glen R, van Hasselt Peter M, Cutz Ernest, Klumperman Judith, Clevers Hans, Nieuwenhuis Edward E S, Houwen Roderick H J, van Haaften Gijs, Hess Michael W, Huber Lukas A, Stapelbroek Janneke M, Müller Thomas, Middendorp Sabine
Abstract excerpt
Microvillus inclusion disease (MVID) is a disorder of intestinal epithelial differentiation characterized by life-threatening intractable diarrhea. MVID can be diagnosed based on loss of microvilli, microvillus inclusions, and accumulation of subapical vesicles. Most patients with MVID have mutations in myosin Vb that cause defects in recycling of apical vesicles. Whole-exome sequencing of DNA from patients with...
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