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Article History

Received: 18 March 2020

Accepted: 1 October 2020

First Online: 19 November 2020

Ethics approval and consent to participate

: As per notification by Ethics Committee of the European Institute of Oncology IRCCS, Milan, Italy (20.12.2013), the study was conducted with reference to the approval for the participation by patients and their relatives along with skin biopsy donations and informed consent procedures by the relevant ethics committees of the Genomic and Genetic Disorder Biobank (Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy), the University of Perugia (Azienda Ospedaliera–Universitaria ‘Santa Maria della Misericordia’, Perugia, Italy) and the University of Antwerp (Department of Medical Genetics, Antwerp, Belgium).Institutional sample providers were the following: (1) Genomic and Genetic Disorder Biobank (Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy), for lines WBS01CN3, WBS02C, CTL01C, Dup02K, Dup03B; (2) The University of Perugia (Azienda Ospedaliera–Universitaria “Santa Maria della Misericordia”, Perugia, Italy), for line DUP01G(N4); (3) The University of Antwerp (Department of Medical Genetics, Antwerp, Belgium), for line Dup04A; (4) The Sanger Institute, for line CTL08A.

: Written informed consent for publication was obtained from patients and their relatives from the institutions (mentioned above) that originally collected the samples.

: The authors declare that they have no competing interests.