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Authors
Kopp, Johannes https://orcid.org/0000-0002-0391-1497
Koch, Leonard A. https://orcid.org/0000-0003-4943-198X
Lyubenova, Hristiana https://orcid.org/0000-0002-5590-3835
Küchler, Oliver https://orcid.org/0009-0008-2628-2890
Holtgrewe, Manuel https://orcid.org/0000-0002-3051-1763
Ivanov, Andranik https://orcid.org/0000-0002-4824-1925
Dubourg, Christele https://orcid.org/0000-0003-1345-4522
Launay, Erika https://orcid.org/0000-0003-1546-7319
Brachs, Sebastian https://orcid.org/0000-0002-6336-3939
Mundlos, Stefan https://orcid.org/0000-0002-9788-3166
Ehmke, Nadja https://orcid.org/0000-0003-1449-9909
Seelow, Dominik https://orcid.org/0000-0002-9746-4412
Fradin, Mélanie https://orcid.org/0000-0002-2535-2198
Kornak, Uwe https://orcid.org/0000-0002-4582-9838
Fischer-Zirnsak, Björn https://orcid.org/0000-0002-1075-7571
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Funding
Funding for this research was provided by:
Charité - Universitätsmedizin Berlin
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Article History
Received: 30 November 2023
Accepted: 11 March 2024
First Online: 9 April 2024
Declarations
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: The Charité - Universitätsmedizin Berlin ethics committee approved the study (EA2/145/07). All procedures followed were in accordance with the Helsinki Declaration of 1975, as revised in 2000.
: The parents of the affected individual II-1 provided written consent for genetic testing and the publication of images in Fig. 1.
: The authors declare no competing interests.
