Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report
Authors
Martina Skopkova
Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia
Katarina Brennerova
Department of Pediatrics, Medical Faculty of Comenius University and National Institute of Children’s Diseases, Bratislava, Slovakia
Maria Ostrozlikova
Department of Laboratory Medicine, National Institute of Children’s Diseases, Bratislava, Slovakia
Daniela Gasperikova
Department of Metabolic Disorders, Institute of Experimental Endocrinology, Biomedical Research Center, Slovak Academy of Sciences, Bratislava, Slovakia
Language: English
Page range: 148 - 158
Published on: Jul 5, 2026
In partnership with: Paradigm Publishing Services
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© 2026 Martina Skopkova, Katarina Brennerova, Maria Ostrozlikova, Daniela Gasperikova, published by Slovak Academy of Sciences, Institute of Experimental Endocrinology
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.