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    Case of phenotype of optic nerve atrophy due to mutation in С19orf12 gene (neurodegeneration with the brain iron accumulation (nbia)) by M.E. Ivanova, V.V. Kadyshev, D.S. Atarshchikov, I.V. Zolnikova, N.P. Akchurina, N.K. Serova, F.A. Konovalov, E.R. Lozier, E.A. Pomerantseva, N.V. Vetrova, D. Barh, L.M. Balashova, J.M. Salmasi

    Published 2020-03-01
    “…Burdenko National Medical Research Center of Neurosurgery, Moscow, Russian <br> Federation</b> </p> <p> <b><sup>6 </sup>Independent Clinical Bioinformatics Laboratory, Moscow, Russian Federation</b> </p> <p> <b><sup>7 </sup>Center for Genetics and Reproductive Medicine “Genetiko”, Moscow, Russian <br> Federation</b> </p> <p> <b><sup>8 </sup>Institute of Integrative Omics and Applied Biotechnology (IIOAB), Bangalore, India</b> </p> <p> <b><sup>9</sup> Non-profit partnership International Scientific and Practical Center for the Proliferation <br> of Tissues of Russia, Moscow, Russian Federation</b> </p> <p> <b><sup>10</sup>Pirogov Russian National Research Medical University, Moscow, Russian Federation</b> </p> <p> <i>The article describes the clinical case of optic atrophy due to a homozygous mutation in exon 3 of the C19orf12 gene (chr19: 30193863AACAGCCCCCCG&gt; A, rs515726204), the frequency of which in the ExAC control sample is 0.0074. …”
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