A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.
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DOI: 10.1038/s10038-021-00947-5
Abstract: Heterotopia is a brain malformation caused by a failed migration of cortical neurons during development. Clinical symptoms of heterotopia vary in severity of intellectual disability and may be associated with epileptic disorders. Abnormal neuronal migration… read more here.
Keywords: ribbon like; like subcortical; heterotopia; missense variant ... See more keywords