Articles with "delineation ebf3" as a keyword



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Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients

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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