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. 2018 Jan 11;59(3):677–684. doi: 10.1007/s12020-017-1497-9

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© The Author(s) 2018

This 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.

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Fig. 3 — a Pedigree tree of our kindred; the proband, subject III.3, is marked with an arrow. b Sequencing electropherogram of the proband’s DNA. The double peak (blue arrow) showing a novel heterozygous missense variant at c.4039 C > T (p.Arg1347Cys)