Journal article

Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease

Michael Nafisinia, Nara Sobreira, Lisa Riley, Wendy Gold, Birgit Uhlenberg, Claudia Weiss, Corinne Boehm, Kristina Prelog, Robert Ouvrier, John Christodoulou

European Journal of Human Genetics | NATURE PUBLISHING GROUP | Published : 2017