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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. 4 — Pedigree and variants in BFSP2, FYCO1, GCNT2, and MIP. These schematics show the encoded domain structure of BFSP2 (a), exonic and protein domain structure of FYCO1 (b), encoded protein domain structure of GCNT2 (c) and MIP (d). Mutations found in this study are illustrated above the schematics, with novel variants indicated in red characters. Probands are indicated by arrows, ^+/− indicates heterozygous individuals, ^−/− for individuals testing negative. WT: wild type, MT: mutant type, W1: Wild Type 1, W2: Wild Type 2, M1: Mutant Type 1, M2: Mutant Type 2