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. 2015 Mar 15;10:32. doi: 10.1186/s13023-015-0247-4

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© Moes-Sosnowska et al.; licensee BioMed Central. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. 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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A pedigree of the proband’s 2 family. The proband (P, II:1) with SCCHT had a germline mutation in SMARCA4 exon 16 (c.2352insG), while her brother (II:2) turned out to be unaffected. The proband’s parents (I:1, I:2) and her second brother (II:3) refused to attend the study. (+/−) heterozygous mutation carrier in the germline; (+/+) wild-type in the germline. A diagonal line through a symbol indicates that the person is deceased.