Authors: Tessa Wassenberg; Marta Molero-Luis; Kathrin Jeltsch; Georg F Hoffmann; Birgit Assmann; Nenad Blau; Angeles Garcia-Cazorla; Rafael Artuch; Roser Pons; Toni S Pearson; Vincenco Leuzzi; Mario Mastrangelo; Phillip L Pearl; Wang Tso Lee; Manju A Kurian; Simon Heales; Lisa Flint; Marcel Verbeek; Michèl Willemsen; Thomas Opladen Journal: Orphanet J Rare Dis Date: 2017-01-18 Impact factor: 4.123