Authors: Danique van Vliet; Annemiek M J van Wegberg; Kirsten Ahring; Miroslaw Bik-Multanowski; Nenad Blau; Fatma D Bulut; Kari Casas; Bozena Didycz; Maja Djordjevic; Antonio Federico; François Feillet; Maria Gizewska; Gwendolyn Gramer; Jozef L Hertecant; Carla E M Hollak; Jens V Jørgensen; Daniela Karall; Yuval Landau; Vincenzo Leuzzi; Per Mathisen; Kathryn Moseley; Neslihan Ö Mungan; Francesca Nardecchia; Katrin Õunap; Kimberly K Powell; Radha Ramachandran; Frank Rutsch; Aria Setoodeh; Maja Stojiljkovic; Fritz K Trefz; Natalia Usurelu; Callum Wilson; Clara D van Karnebeek; William B Hanley; Francjan J van Spronsen Journal: Orphanet J Rare Dis Date: 2018-08-29 Impact factor: 4.123