Funding for this research was provided by:
Connecting Europe Facility (2017-UK-IA-0116)
Sixth Framework Programme (HP-ERN-SGA-2016: 769045; HP-ERN-SGA-2017: 811487)
Received: 11 November 2019
Accepted: 3 March 2020
First Online: 25 April 2020
Ethics approval and consent to participate
: Patients and families were enrolled by the referring doctor. Clinical information was submitted on the CPMS following written informed consent that was obtained for all participants and/or their legal guardians.
: The paper contains no individual data and therefore consent was not required.
: SD is a clinical investigator for Illumina, Biotechnology company. All other authors declare no competing interests.