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. 2017 Nov 2;55(2):104–113. doi: 10.1136/jmedgenet-2017-104946

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© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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Photographs of 21 individuals with PURA mutations. Shared facial dysmorphism includes high anterior hairline, almond-shaped palpebral fissures, full cheeks and hypotonic face. Strabismus is present in several of the PURA (purine-rich element binding protein A) individuals. Additionally, independent dysmorphologists also observed eversion of lower lateral eyelids, prominent, well-defined philtrum and retrognathia in a subset of the individuals.