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. 2022 Jul 26;30(11):1239–1243. doi: 10.1038/s41431-022-01153-3

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© The Author(s), under exclusive licence to European Society of Human Genetics 2022, Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

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Fig. 2 — The patient optical map is aligned and compared with the reference optical map. Molecular labels are reported as vertical lines on both patient’s and reference’s maps. VA was responsible for data analysis and writing the report. FRL was responsible for data analysis and writing the report. MLD was responsible for patients’ clinical evaluation and manuscript revision. SG was responsible for data analysis, literature and paper revision. ES was responsible for data analysis. KB technical support for genome wide analysis. BD was responsible for revising and approving the paper. RC was responsible for patients’ clinical evaluation and paper revision. AN was responsible for revising and approving the paper. MCD was responsible for patients’ clinical evaluation and paper revision.