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Authors
Iturrate, Asier
Tran-Mau Them, Frédéric
Verloes, Alain
Pouzet, Antoine
de Silva, Deepthi
Perrin-Sabourin, Laurence
Wentzensen, Ingrid M.
Jones, Kennedi
Upadia, Jariya
Abdalla, Ebtesam
Thauvin-Robinet, Christel
Ruiz-Perez, Victor L.
Bruel, Ange-Line
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Article History
Received: 24 July 2025
Accepted: 9 November 2025
First Online: 25 November 2025
Declarations
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: The studies involving human participants were reviewed and approved by the appropriate institutional review board of Dijon University Hospital. Patient fibroblasts were obtained through protocols approved by CHU Robert Debre/Hôpitaux de Paris. Functional studies in primary fibroblasts were approved by the Ethics Committees of Hospital La Paz (PI-6270) and CSIC. Informed consent was provided by all participants.
: Written informed consent was obtained from the patient(s), and minor(s) legal guardian/next of kin, for the publication of any potentially identifiable images or data included in this article.
: IMW is an employee of and may own stock in GeneDx.
