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. 2014 Apr 16;7:28. doi: 10.1186/1755-8166-7-28

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Copyright © 2014 Chen et al.; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), 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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Clinical features of patient 2(A-E). Lateral (A, C) and frontal (B) view of the patient. The patient has facial asymmetry, sparse eyebrow, a large nasal tip and a long midface with a large mouth and crowding teeth. (D) Hands and (E) feet of the patient. Arrow indicates the surgically removed preaxial polydactyly. (F) Human 660w-Quad SNP-array analysis of the 10q25.2 deletion including SHOC2 in the Patient 2. SNP-array shows a 0.18 Mb deletion in 10q25.2 (chr10: 112611576-112795021/Hg19). Log R ratio and B allele frequency are showed in the upper panel; deleted genes are showed in the lower panel.