Shaghayegh T Beheshti

Expanding the clinical and molecular spectrum of TUBB2B through distinct variants identified across multiple families

The clinical spectrum of TUBB2B-related tubulinopathies is expanded, phenotypic heterogeneity is illustrated, and insights into disease mechanisms including effects at polyamination sites and rare recessive inheritance are provided, underscoring the need for nuanced genotype-phenotype interpretation in diagnostic and counseling contexts.