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

Nafisinia, M; Sobreira, N; Riley, L; Gold, W; Uhlenberg, B; Weiss, C; Boehm, C; Prelog, K; Ouvrier, R; Christodoulou, J

Christodoulou, J (reprint author), Royal Childrens Hosp, Murdoch Childrens Res Inst, 50 Flemington Rd, Parkville, Vic 3052, Australia.

EUROPEAN JOURNAL OF HUMAN GENETICS, 2017; 25 (10): 1134

Abstract

Pelizaeus-Merzbacher disease (PMD) is a rare Mendelian disorder characterised by central nervous system hypomyelination. PMD typically manifests in in......

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