,
Tonduti, Davide http://orcid.org/0000-0001-9371-7454
Panteghini, Celeste
Pichiecchio, Anna
Decio, Alice
Carecchio, Miryam
Reale, Chiara
Moroni, Isabella
Nardocci, Nardo
Campistol, Jaume
Garcia-Cazorla, Angela
Perez Duenas, Belen
Chiapparini, Luisa
Garavaglia, Barbara
Orcesi, Simona
Article History
Received: 26 February 2018
Accepted: 21 June 2018
First Online: 16 August 2018
Ethics approval and consent to participate
: This study adheres to the principles of the Helsinki Declaration and was carried out through routine diagnostic activity; formal ethics review was therefore not requested by our institutional ethical committee for the targeted next generation sequencing.
: All families provided written informed consent for genetic testing and publication of clinical and genetic data according to the italian bioethics laws.
: The authors declare that they have no competing interests.
: Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.