Lissewski, Christina http://orcid.org/0000-0002-5414-7126
Chune, Valérie
Pantaleoni, Francesca http://orcid.org/0000-0003-0765-9281
De Luca, Alessandro http://orcid.org/0000-0002-4408-8062
Capri, Yline
Brinkmann, Julia http://orcid.org/0000-0001-8064-0101
Lepri, Francesca
Daniele, Paola
Leenders, Erika
Mazzanti, Laura http://orcid.org/0000-0002-7670-6494
Scarano, Emanuela
Radio, Francesca Clementina http://orcid.org/0000-0003-1993-8018
Kutsche, Kerstin
Kuechler, Alma
Gérard, Marion
Ranguin, Kara http://orcid.org/0000-0002-9732-8090
Legendre, Marine
Vial, Yoann http://orcid.org/0000-0003-1437-0427
van der Burgt, Ineke
Rinne, Tuula http://orcid.org/0000-0003-4350-8106
Andreucci, Elena http://orcid.org/0000-0002-4639-8144
Mastromoro, Gioia http://orcid.org/0000-0003-0788-1683
Digilio, Maria Cristina
Cave, Hélène http://orcid.org/0000-0003-2840-1511
Tartaglia, Marco http://orcid.org/0000-0001-7736-9672
Zenker, Martin http://orcid.org/0000-0003-1618-9269
Funding for this research was provided by:
Bundesministerium für Bildung und Forschung (01GM1519A, 01GM1602A)
Deutsche Forschungsgemeinschaft (ZE 524/10-2)
European Joint Programme on Rare Diseases
Ministero della Salute
ERN-ITHACA networking coordinator of HCP AUO S.Orsola ERN ITHACA, Bologna, Italy
Associazione Italiana per la Ricerca sul Cancro (IG21614)
ERN-ITHACA networking European Joint Programme on Rare Diseases
Article History
Received: 15 May 2020
Revised: 16 July 2020
Accepted: 21 July 2020
First Online: 12 August 2020
Change Date: 5 March 2021
Change Type: Update
Change Details: After publication of this article, one family withdrew their permission to use photos from an affected mother and her son in Figure 1. The respective facial photographs have been deleted from Figure 1.
Compliance with ethical standards
:
: The authors declare that they have no conflict of interest.