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Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

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Figure 3.

Figure 3.

Representatives images of TUBB3-related tubulinopathies

A-C. Child age three years with diffuse cortical dysgyria. The cortex shows a coarse appearance, with excessively folded gyri (arrowhead in B). Associated malformations include complete agenesis of corpus callosum (A), pontocerebellar hypoplasia (A), and dysplasia of the cerebellar vermis (arrowhead in C). The basal ganglia are hypertrophic and fused (asterisks in B); the lateral ventricles are dysmorphic (B).

D-F. Child age 11 years; G-I. Child age three years. Both show gyral disorganization with multifocal dysplasia. In both individuals, the cortex has an abnormal appearance with poorly folded gyri, generalized undersulcation (mostly the ternary sulci) (D-F). The basal ganglia are malformed and the lateral ventricles are dysmorphic (E-H). The corpus callosum is hypoplastic (G). The cerebellar vermis is dysplastic (F-I).

From: Tubulinopathies Overview

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