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. 2012 Sep;49(9):547–553. doi: 10.1136/jmedgenet-2012-100967

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2012, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

This is an open-access article distributed under the terms of the Creative Commons Attribution Non-commercial License, which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license. See: http://creativecommons.org/licenses/by-nc/2.0/ and http://creativecommons.org/licenses/by-nc/2.0/legalcode.

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Clinical features (age 7.5 months) and pedigree of patient M11221 with familial 598 kb duplication affecting 11p15.5 and uphd(6)mat.