Pettenuzzo, Ilaria
Carli, Sara http://orcid.org/0000-0001-8130-5364
Sánchez-Cuesta, Ana
Isidori, Federica
Montanari, Francesca
Grippa, Mina
Lanzoni, Giulia
Ambrosetti, Irene
Di Pisa, Veronica
Cordelli, Duccio Maria
Mondardini, Maria Cristina http://orcid.org/0000-0002-8398-3166
Pippucci, Tommaso http://orcid.org/0000-0001-7737-7963
Ragni, Luca
Cenacchi, Giovanna
Costa, Roberta http://orcid.org/0000-0002-2884-6716
Lima, Mario
Capristo, Maria Antonietta
Tropeano, Concetta Valentina
Caporali, Leonardo
Carelli, Valerio
Brunelli, Elena
Maffei, Monica
Ahmed Sheikhmaye, Hodman
Fetta, Anna http://orcid.org/0000-0003-0175-6486
Brea-Calvo, Gloria http://orcid.org/0000-0001-5536-6868
Garone, Caterina http://orcid.org/0000-0003-4928-1037
Article History
Received: 11 December 2023
Revised: 22 March 2024
Accepted: 17 April 2024
First Online: 3 May 2024
Competing interests
: The authors declare no competing interests.
: Exome sequencing and in vitro functional tests for assessing the pathogenicity of the variants in patients’ biological sample were performed on a clinical basis upon parents signed informed consent. For this reason, it was not required a specific ethical approval. Parents also signed a specific informed consent for sharing data, videos and photographs in publication.