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. 2016 Jul 2;11:90. doi: 10.1186/s13023-016-0477-0

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© The Author(s). 2016

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 — a Pedigree of family of P1 and P2. b Bioinformatic analysis of whole exome data. c Sanger sequencing results showing that P1 and P2 were compound heterozygous for the TRNT1 mutations. d Pedigree of family of P3 and P4. e Linkage mapping data showing sizes of the chromosomal regions with the highest LOD scores. f Electropherogram demonstrating the TRNT1 mutation in P3 and P4 (c.569G>T p.Arg190Ile) [11]