Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
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DOI: 10.3389/fgene.2020.00026
Abstract: NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft… read more here.
Keywords: nedd4l variant; polymicrogyria; periventricular nodular; nodular heterotopia ... See more keywords