Authors: Elena Andreucci; Salim Aftimos; Melanie Alcausin; Eric Haan; Warwick Hunter; Peter Kannu; Bronwyn Kerr; George McGillivray; R J McKinlay Gardner; Maria G Patricelli; David Sillence; Elizabeth Thompson; Margaret Zacharin; Andreas Zankl; Shireen R Lamandé; Ravi Savarirayan Journal: Orphanet J Rare Dis Date: 2011-06-09 Impact factor: 4.123