Received: 2 August 2019
Accepted: 2 December 2019
First Online: 19 December 2019
Ethics approval and consent to participate
: Diagnostic genetic testing was performed after written informed consent from the patients or their legal representatives in accordance with local regulations.
: The parents of the children and adult patients described in this article provided written informed consent for participation in the study and for publication of the results.
: The authors declare that they have no competing interests.