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EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome

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Fig. 1

Data Availability

The data that support the findings of this report are available from National Institute of Pediatrics, but restrictions apply to the availability of these data, which were used under license for the current study, and so are not publicly available. Data are however available from the authors upon reasonable request and with permission of National Institute of Pediatrics.

References

  1. Byrne S, Dionisi-Vici C, Smith L, Gautel M, Jungbluth H. Vici syndrome: a review. Orphanet J Rare Dis. 2016. https://doi.org/10.1186/s13023-016-0399-x.

    Article  PubMed  PubMed Central  Google Scholar 

  2. Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HGW, Bodi I, et al. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016;https://doi.org/10.1093/brain/awv393

  3. Abidi KT, Kamal NM, Bakkar AA, Almarri S, Abdullah R, Alsufyani M, et al. Vici syndrome with pathogenic homozygous EPG5 gene mutation: a case report and literature review. Med (Baltimore). 2020; https://doi.org/10.10972FMD.0000000000022302

  4. Piano Mortari E, Folgiero V, Marcellini V, Romania P, Bellacchio E, D’Alicandro V, et al. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Autophagy. 2018;https://doi.org/10.1080%2F15548627.2017.1389356

  5. Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, et al. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. Am J Med Genet Part A. 2012. https://doi.org/10.1002/ajmg.a.34244.

    Article  PubMed  Google Scholar 

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Correspondence to Camilo Villarroel-Cortés.

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Rodríguez-Morales, M., Liquidano-Perez, E., Garza-Mayén, G. et al. EPG5 Compound Heterozygous Unreported Pathogenic Variants in a Mexican Patient with Vici Syndrome. J Clin Immunol 42, 952–954 (2022). https://doi.org/10.1007/s10875-022-01266-w

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  • DOI: https://doi.org/10.1007/s10875-022-01266-w

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