Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

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Figure Pedigrees of the SCA42 families identified in this study

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Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of.

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Figure Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients Genomic and facial overview of the microduplications overlapping the GRIN2D gene found in the retrieved patients (A) Clinical anteroposterior facial photograph of patient 10 depicting characteristic facial features. (B) Thirteen patients were identified with GRIN2D duplications at the 19q13.33 locus. Blue horizontal bars represent the respective microduplication size and breakpoints according to GRCh37/hg19 human genome reference in a 12-Mb genomic window. Gray horizontal bars represent the respective microduplication reported in the study by Dorn et al.13 Carvalheira et al.11 and Wang et al.12 in which no exact copy number variant boundaries are specified (*). Microduplications larger than the depicted genomic interval are shown with arrows at boundaries (patients 1, 2, 7, and 8). Bottom panel: The consensus duplicated region of the 12 patients is depicted in the blue horizontal bar in a 405-kb window. Thirteen RefSeq genes are located in this region. Eduardo Pérez-Palma et al. Neurol Genet 2018;4:e210 Copyright © 2018 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology