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Open access visualization of Photo, Facial Photographs, MRI Images, Individuals, RNU5B-1
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Facial photographs and MRI images of affected individuals with RNU5B-1 (b) variants. MRI brain of Individual 2 shows cerebral and cerebellar parenchymal volume loss. MRI brain of Individual 5 shows hypoplastic corpus callosum. Written informed consent for each individual was obtained from families for publication in this paper.

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