Alberto Burlina, Giacomo Biasucci, corresponding author Maria Teresa Carbone, Chiara Cazzorla, Sabrina Paci, Francesca Pochiero, Marco Spada, Albina Tummolo, Juri Zuvadelli, and Vincenzo Leuzzi, Orphanet J Rare Dis. 2021; 16: 476. Published online 2021 Nov 16.