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. 2018 Oct 23;18:175. doi: 10.1186/s12883-018-1180-7

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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. 2 — Pedigree and segregation analysis. Segregation analysis shows compound heterozygous pattern of disease inheritance. a Family pedigree. b and c Electropherograms showing the segregation pattern of c.563G > A and c.1762C > G (black arrows), in (b) and (c), respectively; in subjects 2040, 2041 (parents), 2045 (healthy sister), 2042, 2043 and 2044 (patients). White arrows point to wild type variants at the genomic positions of interest. The variant c.563G > A is inherited from the mother (2041) while the variant c.1762C > G is inherited from the father