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Figure 1. Pedigrees of affected families A–G, J and P. Filled square=affected male; Filled circle=affected female; *Familial CLCN4 variant present; wt, familial CLCN4 variant absent; NT, not tested. Note unaffected male IV:5 in family B has Klinefelter syndrome (47,XXY). Probands from families H, I, K, L, M, N and O (pedigrees not shown) have de novo variants.

Image published in: Palmer EE et al. (2018)

Copyright © 2018 The Author(s). This image is reproduced with permission of the journal and the copyright holder. This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives license

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