Gain-of-function p.F28S variant in RAC3 disrupts neuronal differentiation, migration and axonogenesis during cortical development, leading to neurodevelopmental disorder
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DOI: 10.1136/jmedgenet-2022-108483
Abstract: Background RAC3 encodes a Rho family small GTPase that regulates the behaviour and organisation of actin cytoskeleton and intracellular signal transduction. Variants in RAC3 can cause a phenotypically heterogeneous neurodevelopmental disorder with structural brain anomalies… read more here.
Keywords: neurodevelopmental disorder; migration; rac3; f28s ... See more keywords