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. 2017 Oct 11;55(1):28–38. doi: 10.1136/jmedgenet-2017-104620

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This is an Open Access article distributed in accordance with the terms of the Creative Commons Attribution (CC BY 4.0) license, which permits others to distribute, remix, adapt and build upon this work, for commercial use, provided the original work is properly cited. See: http://creativecommons.org/licenses/by/4.0/

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Anterior (A) and profile (B) facial photographs of 14 individuals with mutations in CDK13. Note hypertelorism or telecanthus, upslanting palpebral fissures with medial epicanthic folds, small mouth with thin upper lip and low set or posteriorly rotated ears. Clinical features overlapping those of Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome are most evident in early childhood (C). Anterior photographs of patients 1 and 8 are reprinted by permission from Macmillan Publishers Ltd: Nat Genet 2016;48:1060-5.