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Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations

Pubmed ID: 
23284067
Year: 
2013
Month: 
Jan
Volume: 
80
Issue: 
5
Citation: 
Rudnik-Schoneborn S, Senderek J, Jen JC, Houge G, Seeman P, Puchmajerova A, Graul-Neumann L, Seidel U, Korinthenberg R, Kirschner J, Seeger J, Ryan MM, Muntoni F, Steinlin M, Sztriha L, Colomer J, Hubner C, Brockmann K, Van Maldergem L, Schiff M, Zerres K. Pontocerebellar hypoplasia type 1 Clinical spectrum and relevance of EXOSC3 mutations. NEUROLOGY 80 (5) : 438 - 446(2013) PubMed