First description of an unusual novel double mutation in MECP2 co-occurring with the m.827A>G mutation in the MT-RNR1 gene associated with angelman-like syndrome
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DOI: 10.1016/j.ijdevneu.2019.10.002
Abstract: Mutations in Methyl‐CpG‐Binding protein 2 (MECP2), located on Xq28 and encoding a methyl CpG binding protein, are commonly related to Rett syndrome. However, MECP2 mutations have already been reported in patients with neurodevelopmental abnormalities such… read more here.
Keywords: novel double; mecp2; double mutation; unusual novel ... See more keywords