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. 2019 Oct 1;97(2):235–245. doi: 10.1111/cge.13640

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© 2019 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

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FBN1 and FBN2 a priori (likely) pathogenic variants in gnomAD and FBN1/FBN2 dual variants in Family 1 and Family 2. Lollipops show the type and position of variants in relation to protein domain structure. Red boxes indicate the severe/neonatal region in FBN1 (exons 23‐34) and the comparable congenital contractural arachnodactyly (CCA)‐mutation‐hotspot region in FBN2 (exons 23‐34). cbEGF, calcium‐binding epidermal growth factor; EGF, epidermal growth factor; HGMD, Human Gene Mutation Database; indel, small insertion/deletion; TB, transforming growth factor β binding. Information on protein domains was obtained from umd.be/FBN1 and umd.be/FBN2. Lollipop diagrams were generated using the R package “trackViewer,” available from http://bioconductor.org/packages/release/bioc/html/trackViewer.html [Colour figure can be viewed at http://wileyonlinelibrary.com]