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Authors
Dentici, Maria Lisa
Niceta, Marcello https://orcid.org/0000-0003-4766-7753
Lepri, Francesca Romana
Mancini, Cecilia
Priolo, Manuela
Bonnard, Adeline Alice https://orcid.org/0009-0003-8763-3563
Cappelletti, Camilla
Leoni, Chiara https://orcid.org/0000-0002-4089-637X
Ciolfi, Andrea https://orcid.org/0000-0002-6191-0978
Pizzi, Simone
Cordeddu, Viviana
Rossi, Cesare
Ferilli, Marco
Mucciolo, Mafalda
Colona, Vito Luigi https://orcid.org/0000-0002-9660-7397
Fauth, Christine
Bellini, Melissa
Biasucci, Giacomo
Sinibaldi, Lorenzo https://orcid.org/0000-0002-1371-936X
Briuglia, Silvana
Gazzin, Andrea https://orcid.org/0000-0002-5230-2831
Carli, Diana https://orcid.org/0000-0001-5690-6504
Memo, Luigi
Trevisson, Eva https://orcid.org/0000-0002-5380-6265
Schiavariello, Concetta https://orcid.org/0000-0001-9778-5905
Luca, Maria
Novelli, Antonio https://orcid.org/0000-0002-9037-4297
Michot, Caroline
Sweertvaegher, Anne
Germanaud, David
Scarano, Emanuela
De Luca, Alessandro https://orcid.org/0000-0002-4408-8062
Zampino, Giuseppe
Zenker, Martin https://orcid.org/0000-0003-1618-9269
Mussa, Alessandro https://orcid.org/0000-0003-2795-6013
Dallapiccola, Bruno
Cavé, Helene https://orcid.org/0000-0003-2840-1511
Digilio, Maria Cristina
Tartaglia, Marco https://orcid.org/0000-0001-7736-9672
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Funding
Funding for this research was provided by:
Ministero della Salute (5 per 1000_2024, PNRR-MR1-2022-12376811, 5 per 1000_2023)
Associazione Italiana per la Ricerca sul Cancro (IG28768)
European Joint Programme on Rare Diseases
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Article History
Received: 26 January 2024
Revised: 9 April 2024
Accepted: 20 May 2024
First Online: 1 June 2024
Competing interests
: The authors declare no competing interests.
: The study was approved by the local Institutional Ethical Committee (ref. NRR-MR1-2022-12376811). Clinical data, pictures, and DNA samples were collected, used, and stored after signed informed consent from the participating subjects/families were secured. Written informed consents were obtained for the publication of individual pictures.
