Authors: Katy Phelan; Luigi Boccuto; Craig M Powell; Tobias M Boeckers; Conny van Ravenswaaij-Arts; R Curtis Rogers; Carlo Sala; Chiara Verpelli; Audrey Thurm; William E Bennett; Christopher J Winrow; Sheldon R Garrison; Roberto Toro; Thomas Bourgeron Journal: Orphanet J Rare Dis Date: 2022-01-29 Impact factor: 4.303