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. 2018 Jun 18;13:94. doi: 10.1186/s13023-018-0828-0

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© The Author(s). 2018

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. 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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Fig. 1 — Mutation spectrum of familial and sporadic pediatric cataract cases. The mutation detection rates in the familial and sporadic cases were 75 and 47.8%, respectively. Mutations were found in 15 different genes, with high-penetrance mutations distributed in crystallins, MIP, GCNT2, IARS2, and NHS