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. 2014 Dec 17;15(1):1127. doi: 10.1186/1471-2164-15-1127

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© Geng et al.; licensee BioMed Central. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. 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.

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Recurrent deletions in the 4q terminal region. (A) The previously reported cardiovascular critical region (4q32.2-q34.3) are located proximal to the smallest overlapping region (SOR) defined in this study. The two regions do not overlap. The asterisk indicates the de novo variant. (B) Two additional cases with deletion overlap with the SOR. Cases 1 from Strehle, EM, et al. [30] and Case 2 from Maurin et al. [29]. All three 4q terminal deletions involved the SORBS2 gene.