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. 2023 Jun 21;31(9):1023–1031. doi: 10.1038/s41431-023-01410-z

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© The Author(s), under exclusive licence to European Society of Human Genetics 2023. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

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Fig. 1 — A Patients with RMFSL (P1, P3, P4, P5, P25). Note cerebral atrophy and enlarged subarachnoid spaces on axial and sagittal planes. B Patients with NEDCAS (P32, P33, P35, P36). Note cerebellar atrophy on sagittal and coronal planes.