Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy
Ilse Julia Broekaert, Kerstin Becker, Ingo Gottschalk, Friederike Körber, Jörg Dötsch, Holger Thiele, Janine Altmüller, Peter Nürnberg, Christoph Hünseler, Sebahattin Cirak
Journal of Medical Genetics Sep 2018, 55 (9) 637-640; DOI: 10.1136/jmedgenet-2018-105262