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Authors
Marin, Victor https://orcid.org/0009-0000-7439-192X
Lannes, Hugo
Dumont, Victor
Thevenon, Julien https://orcid.org/0000-0001-9271-3961
Baux, David https://orcid.org/0000-0003-3423-1221
Roux, Anne-Françoise
Lasseaux, Eulalie
Pennamen, Perrine https://orcid.org/0000-0002-0363-9884
Lebreton, Louis https://orcid.org/0000-0002-8583-1326
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Article History
Received: 27 July 2025
Revised: 20 December 2025
Accepted: 17 February 2026
First Online: 7 March 2026
Competing interests
: The authors declare no competing interests.
: This study involved genomic analyses conducted as part of routine clinical care for patients with rare diseases in France. As such, a clinical trial registration was not required, since all data reported were obtained during standard diagnostic procedures. In accordance with the French Bioethics Law (Law No. 2004-800, dated August 6, 2004), all patients provided written informed consent for diagnostic procedures and were specifically informed that any remaining biological material could be used for research purposes. The retrospective use of these data was approved by the Bordeaux University Hospital under registration number CHUBX2025RE0134 .
