The following new article has just been published in Orphanet Journal of Rare Diseases
For articles using Author Version-first publication you will see a provisional PDF corresponding to the accepted manuscript. In these instances, the fully formatted Final Version PDF and full text (HTML) versions will follow in due course.
Probst F, James R, Burrage L, Rosenfeld J, Bohan T, Melver C, Magoulas P, Austin E, Franklin A, Azamian M, Xia F, Patel A, Bi W, Bacino C, Belmont J, Ware S, Shaw C, Cheung S, Lalani S
Orphanet Journal of Rare Diseases 2015, 10 :75 (14 June 2015)