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Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report Cover

Milder Form of Vici Syndrome Due to Novel Missense Variant in Epg5 Gene Affecting Splicing: A Case Report

Endocrine Regulations
Volume 60 (2026): Issue 1 (January 2026)
By: ,  ,   and    
Open Access
|Jul 2026
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DOI: https://doi.org/10.2478/enr-2026-0015 | Journal eISSN: 1336-0329 | Journal ISSN: 1210-0668
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Language: English
Page range: 148 - 158
Published on: Jul 5, 2026
Published by: Slovak Academy of Sciences, Institute of Experimental Endocrinology
In partnership with: Paradigm Publishing Services
Keywords:
rare disease,
Vici syndrome,
EPG5,
splicing,
mini-gene assay,
phenotypic spectrum
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other,
Medicine,
Clinical medicine,
Internal medicine,
Endocrinology, diabetology,
Life sciences,
Neurobiology,
Life sciences,
Molecular biology

© 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.

Volume 60 (2026): Issue 1 (January 2026)
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