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. 2020 Mar 10;10:4428. doi: 10.1038/s41598-020-61444-x

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© The Author(s) 2020

Open Access This 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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Somatic MAP2K1 mutations are isolated to the skin and subcutis of ear AVM tissue. (A) Laser capture microdissection of cartilage from surrounding tissue to minimize inclusion of adjacent microscopic vessels containing mutant endothelial cells (Alcian Blue stain; Patient 2). Top panel = pre-microdissection, bottom panel = post-microdissection. B,C,D = Patient 1, 2, 3 ddPCR graphs of their AVM ear tissue. Top row of graphs = skin and subcutaneous adipose. Bottom row of graphs = cartilage. Left upper blue droplets contain mutant alleles. Right middle orange droplets have mutant and wild-type alleles. Right lower green droplets contain wild-type alleles. Left lower black droplets are empty. Note absence of mutant droplets in the cartilage graphs.