De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

H. Saitsu,Taki Nishimura,K. Muramatsu,H. Kodera,S. Kumada,K. Sugai,Emi Kasai-yoshida,Noriko Sawaura,Hiroya Nishida,A. Hoshino,Fukiko Ryujin,S. Yoshioka,K. Nishiyama,Yukiko Kondo,Y. Tsurusaki,M. Nakashima,N. Miyake,H. Arakawa,Mitsuhiro Kato,N. Mizushima,N. Matsumoto

Published 2013 in Nature Genetics

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