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. 2018 Jun 18;13:94. doi: 10.1186/s13023-018-0828-0

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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. 5 — Pedigree and variants in BCOR, IARS2, and NHS. These schematics show the encoded domain structure of BCOR (a), IARS2 (b), and NHS (c). BCOR and NHS are X-linked genes. The variants found in this study are illustrated above the schematics. Probands are indicated by arrows. A dotted circle indicates an obligate X-linked carrier. ^+/− indicates heterozygous individual, ^−/− indicates individual testing negative, ^+/0 indicates hemizygote testing positive, ^−/0 indicates hemizygote testing negative. W1: Wild Type 1, W2: Wild Type 2, W3: Wild Type 3, M1: Mutant Type 1, M2: Mutant Type 2, M3: Mutant Type 3