Smirne, C. http://orcid.org/0000-0002-3338-5416
Giacomini, G. M. http://orcid.org/0000-0001-5972-4626
Berton, A. M. http://orcid.org/0000-0002-4745-2624
Pasini, B. http://orcid.org/0000-0002-4373-1212
Mercalli, F. http://orcid.org/0000-0003-0818-4660
Prodam, F. http://orcid.org/0000-0001-9660-5335
Caputo, M. http://orcid.org/0000-0003-0470-9343
Brosens, L. A. A. http://orcid.org/0000-0003-1341-8994
Mollero, E. L. M. http://orcid.org/0000-0002-1903-5874
Pitino, R. http://orcid.org/0000-0002-2685-3090
Pirisi, M. http://orcid.org/0000-0001-9740-0155
Aimaretti, G. http://orcid.org/0000-0002-6186-0106
Ghigo, E. http://orcid.org/0000-0002-2809-8105
Funding for this research was provided by:
Università degli Studi del Piemonte Orientale Amedeo Avogrado
Article History
Received: 26 June 2023
Accepted: 17 December 2023
First Online: 31 January 2024
Declarations
:
: The authors have no relevant financial or non-financial interests to disclose.
: All procedures performed in the study involving human participants were in accordance with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Ethical approval was granted exemption by the local Ethics Committee (Comitato Etico Interaziendale Novara, ) both because it was considered as an observational study and all the procedures being performed, including genetic analyses, were part of the routine care and not a formal research protocol.
: Written informed consent was obtained from all subjects involved in the study. In addition, written consent concerning mutation analysis was obtained from the index patient (for herself) and both parents (for their two children under 16).
: Written informed consent for publication of their clinical details and clinical images was obtained from the patient about herself and her minor children. A copy of the consent form is available for review by the Editor of this journal.