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. 2023 Dec 20;111(1):200–210. doi: 10.1016/j.ajhg.2023.11.012

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© 2023 The Authors

This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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Brain imaging features associated with GTPBP1/2-related disorders

Montage of cross-sectional MR images representing the spectrum of findings on neuroimaging. I-1 (A–D), I-4 (E and F), I-9 (G and H), I-12 (I and J), I-14 (K and L), I-16 (M and N), I-17 (O and P), I-18 (Q and R). The primary abnormalities included global cerebellar hypoplasia and atrophy (I-1, I-4, I-5, I-6, I-7, I-8, I-9), cerebellar hypoplasia (I-2, I-3), callosal hypoplasia (I-3, I-4, I-6), and underdevelopment and/or atrophy of the frontotemporal regions with involvement of the opercula (all individuals).