A Recurrent De Novo Variant in EIF2AK2 Causes a Hypomyelinating Leukodystrophy
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De novo pathogenic variants in EIF2AK2 have recently been reported as a novel genetic cause of leukoencephalopathy. Here, we describe a male individual who presented in the first year of life with clinical features resembling Pelizaeus-Merzbacher disease (PMD)... ...
