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Authors
Brunelle, Perrine https://orcid.org/0000-0002-3589-6885
Jourdain, Anne-Sophie
Escande, Fabienne
Audebert-Bellanger, Séverine
Bouquillon, Sonia
Cormier-Daire, Valérie https://orcid.org/0000-0002-2839-9856
Desdoits, Alexandra https://orcid.org/0009-0009-1961-3556
Lacombe, Didier
Molin, Arnaud https://orcid.org/0000-0003-0520-2800
Gruchy, Nicolas
Touraine, Renaud
Van Gils, Julien https://orcid.org/0000-0003-1497-9363
Ghoumid, Jamal
Thomes, Luc https://orcid.org/0009-0003-2628-7900
Petit, Florence https://orcid.org/0000-0002-1368-1023
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Funding
Funding for this research was provided by:
GCS G4, FHU G4 Génomique
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Article History
Received: 27 November 2025
Revised: 3 February 2026
Accepted: 12 February 2026
First Online: 3 March 2026
Competing interests
: The authors declare no competing interests.
: Genetic analyses were performed on a diagnosis basis and written were obtained from the patients or their parents. Permission was obtained to publish individual clinical details and pedigree charts, patient photos or images. This research adheres to the principles set out in the Declaration of Helsinki.
