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. 2015 Mar 19;2:15008. doi: 10.1038/hgv.2015.8

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Copyright © 2015 The Japan Society of Human Genetics

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-nd/4.0/

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Clinical features in three patients of the family and the result of Sanger sequencing. Typical complex eyelid malformation was detected in members III:5 (a), III:10 (b) and IV:1 (c). Mutation c.858_868dup is displayed (d). Frames indicate the duplication section.