A case of megalencephalic leukoencephalopathy with subcortical cysts type 1 was identified with a novel compound heterozygous alteration (c.135delC; c.423+2dupT) in China

Por Dai, Cong‐Ling, He, Wen‐Bin, Du, Juan, Tan, Yue‐Qiu, Lu, Guang‐Xiu, Li, Wen
Publicado no Clin Case Rep (2017)