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. 2020 Apr 15;8:48. doi: 10.1186/s40478-020-00929-2

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© The Author(s) 2020

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

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Fig. 1 — Main macroscopic and histological findings of EIF2B5 mutated foetal brain aged 32 WG. a External view of the right hemisphere of the second foetus showing almost closed Sylvian fissure (arrow), absent postcentral gyrus whereas the central fissure is present (arrowhead) and dysmorphic superior temporal gyrus (asterisk) with poor secondary sulcation. b compared with an age-matched control brain where the Sylvian fissure is still open (arrow), with all primary and secondary sulci and gyri already formed, in particular the superior temporal sulcus (asterisk). c With on coronal section passing through the diencephalon where several small-sized periventricular pseudo-cysts are observed (black arrow) whereas the corpus callosum is normal (white arrow). d Histology of the cerebellar cortex displaying an abnormal five-layered immature cortex with abnormal persistence of the lamina dissecans (transient layer IV, arrow) corresponding to a developmental stage of 24 WG [OM × 100]. e Luxol- phloxin stain of the medulla oblongata just above the decussation of pyramids (asterisk) displaying no myelin in the second foetus [OM × 16]. f Compared with an age matched control, where all fascicles are myelinated, except corticospinal tracts (asterisk) which begin to be myelinated [OM × 16]. g Absent myelination around the poorly convoluted dentate nucleus and vacuolization of the cerebellar white matter inside the dentate nucleus (asterisk) [OM × 50]. h Compared with the control where the dentate nucleus is normally convoluted and surrounded by myelinated white matter [OM × 50]