Clinical characterization and in silico structural analysis of microtubule-related gene variants in eleven patients

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10 Nov 2026 0 comments

CONCLUSION: This study delineates the diverse clinical spectrum across patients harboring MTs variants: TUBA1A variants were predominantly observed in individuals with cortical malformations and potential developmental regression, TUBB2A with severe static neurodevelopmental delay and drug-resistant epilepsy, TUBB4A with motor impairment (with systemic lupus erythematosus noted in one individual as an unusual co-observation), and TUBGCP6 with primary growth and developmental delay. In silico...