Associated Papers
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
Byrne S et al.
Brain : a Journal of Neurology, 2016
First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature.
Ehmke N et al.
American Journal of Medical Genetics. Part A, 2014
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Cullup T et al.
Nature Genetics, 2013
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