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. 2019 Apr 26;6:20. doi: 10.1038/s41439-019-0051-0

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© The Author(s) 2019

Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 1 — a Three-generation pedigree of the family in this study. Each symbol is annotated below. b, c Photograph of patients 1 and 2. Macrocephaly was noted in patient 1, but microcephaly and bulbous nose were noted in patient 2. d, e Brain MRI of patient 2 (d axial FLAIR image view, e sagittal T1-weighted view). MRI reveals mild hypoplasia of the cerebellum and brainstem. MRI magnetic resonance imaging