Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
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DOI: 10.1212/nxg.0000000000200049
Abstract: Background and Objectives Heterozygous mutations or deletions of the EBF3 gene are known to cause a syndrome characterized by intellectual disability, neurodevelopmental disorders, facial dysmorphisms, hypotonia, and ataxia; the latter is quite common despite in… read more here.
Keywords: neuroradiologic features; ebf3 related; neurologic neuropsychologic; related syndrome ... See more keywords