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. 2020 Mar 19;139(5):575–592. doi: 10.1007/s00439-020-02138-2

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© The Author(s) 2020

Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Fig. 3 — Clinical phenotype in RAD21 patients. Anterior–posterior facial views. F family identification number, y age in years. Family numbers correspond to family numbers in the tables. Ages are indicated below each picture. Intrafamilial variability is illustrated by the comparison of facial morphology between the members of family F6 and of family F16. Interfamilial variability is illustrated by the comparison of facial morphology between patients F15 and F16a/b who harbor the p.(Arg586*) variant. Pictures of members of F6 and of F17 were republished with permission (Gudmundsson et al. 2018 and Boyle et al. 2017)