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- W2149244911 abstract "Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X)." @default.
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- W2149244911 date "2014-11-26" @default.
- W2149244911 modified "2023-10-05" @default.
- W2149244911 title "Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran" @default.
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- W2149244911 doi "https://doi.org/10.1002/ccr3.168" @default.
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