Single gene disorders of the autophagy pathway are an emerging, novel and diverse group
of multisystem diseases in children. Clinically, these disorders prominently affect the central …

Vici syndrome [OMIM242840] is a severe, recessively inherited congenital disorder
characterized by the principal features of callosal agenesis, cataracts, oculocutaneous …

Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive
mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological …

Mutations in the autophagy gene EPG5 are linked to the multisystem human disease Vici
syndrome, which is characterized in part by pulmonary abnormalities, including recurrent …

Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with
multisystem involvement characterized by agenesis of the corpus callosum, cataracts …

Vici syndrome is a human inherited multi-system disorder caused by recessive mutations in
EPG5, encoding the EPG5 protein that mediates the fusion of autophagosomes with …

The EPG5 protein is a RAB7A effector involved in fusion specificity between
autophagosomes and late endosomes or lysosomes during macroautophagy/autophagy …

Autophagy is a fundamental and conserved intracellular pathway that mediates the
degradation of macromolecules and organelles in lysosomes. Proper autophagy function is …

Vici syndrome (OMIM 242840) is a rare syndrome and since its initial description by Vici et
al.[1988], only 29 cases have been reported. We describe two brothers from healthy …

Proper regulation of the immune system is required for protection against pathogens and
preventing autoimmune disorders. Inborn errors of the immune system due to inherited or de …