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. 2018 Dec 7;19:208. doi: 10.1186/s12881-018-0728-0

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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 — Pedigree of the family with c.3234C > G, p.Ile1078Met variant in MYH11 gene and c.363_367del GAGTC, p.Met121Ilefs*5 variant in ACTA2 gene. The individual II:2 on initial screening had normal aortic measurements and after genetic screening was re-evaluated and found to have a mild dilation. Proband is indicated with an arrow; Black-filled symbols represent affected individuals with TAA; Age of the family members and their genotypes are listed below the symbols; Dotted lines indicate the absence of the mutation