The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
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DOI: 10.3389/fped.2022.960450
Abstract: Purpose Loss-of-function mutations of CTNNB1 have been established as the cause of neurodevelopmental disorder with spastic diplegia and visual defects. Although most patients share key phenotypes such as global developmental delay and intellectual disability, patients… read more here.
Keywords: neurodevelopmental disorder; clinical genetic; spectrum; related neurodevelopmental ... See more keywords