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Authors
Malbos, Marlène https://orcid.org/0009-0005-6258-1706
Gautier, Thierry
Shillington, Amelle https://orcid.org/0000-0002-7447-8117
Colin, Estelle https://orcid.org/0000-0001-7913-3938
Le Guillou, Xavier https://orcid.org/0000-0001-9350-8177
Caluseriu, Oana
Isidor, Bertrand
Cogné, Benjamin https://orcid.org/0000-0002-5503-6292
Mignot, Cyril
Keren, Boris
Weber, Sacha
Jacquin, Clémence
Dudding, Tracy
Calame, Daniel https://orcid.org/0000-0001-6860-372X
Piard, Juliette https://orcid.org/0000-0001-5244-5325
Levy, Jonathan https://orcid.org/0000-0002-8822-816X
Latypova, Xenia
Verloes, Alain https://orcid.org/0000-0003-4819-0264
Niclass, Tanguy
Jacquette, Aurélia
White, Lori
Moizard, Marie-Pierre
Dollfus, Hélène https://orcid.org/0000-0002-2249-895X
Moutton, Sébastien https://orcid.org/0000-0002-8942-6731
Delanne, Julian
Racine, Caroline https://orcid.org/0000-0003-2378-5982
Thomas, Quentin https://orcid.org/0000-0003-1185-1663
Denommé-Pichon, Anne-Sophie https://orcid.org/0000-0002-8986-8222
Tran Mau-Them, Frédéric https://orcid.org/0000-0002-3795-9456
Bruel, Ange-Line https://orcid.org/0000-0002-0526-465X
Safraou, Hana
Philippe, Christophe https://orcid.org/0000-0001-7098-6520
Duffourd, Yannis
Thauvin-Robinet, Christel https://orcid.org/0000-0002-4155-139X
Govin, Jérôme https://orcid.org/0000-0001-5511-6965
Vitobello, Antonio https://orcid.org/0000-0003-3717-8374
Faivre, Laurence https://orcid.org/0000-0001-9770-444X
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Funding
Funding for this research was provided by:
European Union
Dijon University Hospital French Genomic Medicine Initiative
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Article History
Received: 10 February 2025
Revised: 6 July 2025
Accepted: 1 September 2025
First Online: 22 September 2025
Competing interests
: The authors declare no competing interests.
: Data obtained in this study were collected retrospectively and anonymously. They did not require any ethical authorization according to the French law. Our establishment’s clinical research department was nevertheless consulted. Protocol for DEFIDIAG project was approved by the Ethics Committee Sud Méditerranée I and the French data privacy commission (CNIL, authorization 919361). Probands/families agreed for publication and signed a specific consent when they agreed for publishing recognizable photographs.
