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Authors
D’Alessio, Alfonso Manuel https://orcid.org/0000-0002-1557-415X
Indrieri, Alessia https://orcid.org/0000-0002-2325-0913
Vitiello, Giuseppina
Morleo, Manuela
Schelley, Susan https://orcid.org/0000-0002-6331-247X
Enns, Gregory M.
Passarelli, Chiara https://orcid.org/0000-0001-7919-4626
Tammaro, Roberta
Tiranti, Valeria https://orcid.org/0000-0002-3584-7338
Peron, Camille https://orcid.org/0000-0003-4916-2329
Deb, Wallid https://orcid.org/0000-0002-5103-8573
Novelli, Antonio https://orcid.org/0000-0002-9037-4297
Isidor, Bertrand
Iolascon, Achille
Franco, Brunella https://orcid.org/0000-0001-5588-4569
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Funding
Funding for this research was provided by:
Fondazione Telethon
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Article History
Received: 25 August 2025
Revised: 20 March 2026
Accepted: 26 March 2026
First Online: 21 April 2026
Competing interests
: The authors declare no competing interests.
: Ethical approval was not required for this study because it involved retrospective analysis of previously published cases and clinical data collected as part of routine diagnostic procedures. For the newly reported patients, all genetic testing and clinical evaluations were performed according to standard clinical practice. Informed consent was obtained from all participants or their guardians, with written consent archived for all patient photographs. The study did not involve experimental interventions outside standard care.
