Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy
Thomas Cullup(Guy's Hospital), Heinz Jungbluth(King's College London), Stefan Koelker(Heidelberg University), Ay Lin Kho(King's College London), Verity M. McClelland(National Health Service), Mathias Gautel(King's College London), Michael A. Simpson(Guy's Hospital), Birgit Brandmeier(King's College London), István Bódi(King's College Hospital NHS Foundation Trust), Frits A. Wijburg(Emma Kinderziekenhuis), Caroline A. Sewry(Great Ormond Street Hospital), Christian Windpassinger(Medical University of Graz), Enrico Bertini(Bambino Gesù Children's Hospital), Dragana Josifova(Guy's Hospital), Rie Miyata(Sendai Shakai Hoken Hospital), Francis Filloux(University of Utah), Frances J.D. Smith(Guy's Hospital), Amber E. ten Hoedt(University of Amsterdam), Stefan Buk(King's College Hospital), Jozef Hertecant(Tawam Hospital), Stephen Abbs(Guy's Hospital), Shehla Mohammed(Guy's Hospital), Carlo Dionisi‐Vici(Bambino Gesù Children's Hospital), Zoë Urry(Guy's Hospital), Georg F. Hoffmann(Laboratoire des Sciences du Climat et de l'Environnement), Miguel Del Campo(Vall d'Hebron Hospital Universitari), R. Curtis Rogers(Greenwood Genetic Center), Masaharu Hayashi(Tokyo Metropolitan Institute of Medical Science), Peter M. Kroisel(Medical University of Graz), Hans-Hilmar Goebel(Johannes Gutenberg University Mainz), David Manchester(Children's Hospital Colorado), Mohammed Al‐Owain(King Faisal Specialist Hospital & Research Centre), Shu Yau(Guy's Hospital), Christian Koerner(Heidelberg University), Salwa Al-Kaabi(Tawam Hospital), Doriette Soler(Mater Dei Hospital)
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