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. 2014 Jan 27;5:5. doi: 10.1186/2040-2392-5-5

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Copyright © 2014 Matsunami 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 cited. 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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Segregation of DEFB124 variant in a multi-generation pedigree. Pedigree 4 has seven children affected with autism. Links between this pedigree and other high-risk autism pedigrees are indicated by blue boxes. Sequence variants identified in the family are shown in the black boxes. CNVs inherited by two individuals [27] are shown in red boxes. Pedigree symbols are described in the legend for Figure 2. Odds ratios for the variants observed in the case/control study are shown in parentheses. Variants with no odds ratio were observed only in high-risk families. All family members were tested for all variants unless no DNA was available. Individuals with no available DNA are indicated.