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Authors
Muto, Valentina
Fasano, Giulia https://orcid.org/0000-0003-4807-153X
Radio, Francesca Clementina https://orcid.org/0000-0003-1993-8018
Pedalino, Catia https://orcid.org/0000-0002-9105-1203
Carvetta, Mattia
Coppola, Simona https://orcid.org/0000-0001-7851-9409
Zara, Erika
Petrini, Stefania https://orcid.org/0000-0002-3249-0003
Schluth-Bolard, Caroline https://orcid.org/0000-0002-2279-4273
Bilbault, Claire
El Chehadeh, Salima https://orcid.org/0000-0003-1613-6570
Gérard, Bénédicte
de Saint-Martin, Anne
Koboldt, Daniel C.
Sites, Emily
Curry, Cynthia https://orcid.org/0000-0001-7585-1940
Herget, Theresia
Höing, Ann-Sophie
von Elsner, Leonie
Barr, Eileen Elizabeth
Hodoglugil, Ugur
Slavotinek, Anne
Tartaglia, Marco https://orcid.org/0000-0001-7736-9672
Lauri, Antonella https://orcid.org/0000-0003-2260-182X
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Funding
Funding for this research was provided by:
Fondazione Telethon (GMR23T1168)
Ministero della Salute (5x1000)
Ministero della Salute (PNRR-MR1-2022-12376811)
Ministero della Salute (Current Research Funds)
Ministero della Salute (RF-2021-12374963)
Istituto Superiore di Sanità (ISS20-2e15b898baf0)
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Article History
Received: 11 September 2025
Revised: 12 November 2025
Accepted: 9 December 2025
First Online: 8 January 2026
Competing interests
: The authors declare no competing interests.
: All subjects were referred for diagnostic genetic testing. Clinical data and DNA samples were collected, stored, and used in accordance with the ethical standards of the Declaration of Helsinki, following written informed consent from participating families. The study was approved by the local Institutional Ethical Committee of the Ospedale Pediatrico Bambino Gesù, Rome (ref. RF-2021-12374963 and PNRR-MR1-2022-12376811). Written informed consents were obtained for publication of individual pictures and clinical details. All animal experiments were conducted according to ARRIVE guidelines ( ) upon approval of the Italian Ministry of Health (Direzione Generale della Salute Animale - Ufficio 6 EX DGSAF, ref.n° 652/2024-PR).
