Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome
Sign Up to like & getrecommendations! Published in 2023 at "Neurology: Genetics"
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
Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2023.1091532
Abstract: Neurodevelopmental disorders (NDDs) have heterogeneity in both clinical characteristics and genetic factors. EBF3 is a recently discovered gene associated with a syndromic form of NDDs characterized by hypotonia, ataxia and facial features. In this study,… read more here.
Keywords: neurodevelopmental disorder; ebf3 related; related syndromic; syndromic neurodevelopmental ... See more keywords