Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report
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Objective. Vici syndrome is a rare neurodevelopmental disorder with multisystem involvement, caused by mutations in the EPG5 gene encoding a protein involved in autophagy. It includes dysgenesis of the corpus callosum, cataracts, hypopigmentation, cardiomyopat... ...
