Funding for this research was provided by:
human frontiers science program grant (RGP0058/2016)
ukri future leaders fellowship (MR/T021985/1)
international max planck research school (imprs) phd fellowship
Received: 7 July 2021
Accepted: 25 September 2021
First Online: 12 October 2021
: The patient’s parents provided written informed consent to exome sequencing and inclusion into the research study approved by the Giannina Gaslini Children’s Institute Ethics Committee.
: A signed consent for this publication has been obtained from the patient and his parents.
: All authors declare no disclosures relevant to the manuscript.