- Expanding the Phenotype of TUBB2A-Related Tubulinopathy: Three Cases of . . .
One of these conditions is TUBB2A -related tubulinopathy Currently, there are 9 reported individuals with pathogenic variants within the TUBB2A gene, with common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum
- Genetic Disorder: Understanding Tubb2a and Its Impact
Learn about Tubb2a, a genetic disorder associated with intellectual disability, speech delay, and developmental delay Find out about its causes, symptoms, and available treatment options
- Defining the phenotypical spectrum associated with variants in TUBB2A
Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria, while one patient has been reported with progressive atrophy of the cerebellar vermis
- Tubulin mutations in human neurodevelopmental disorders
These disorders referred to as “tubulinopathies” are characterized by a wide variety of cortical dysgenesis associated with midline defects and cerebellar malformations reflecting the disruption of multiple steps in cortical development mutations in tubulin isotypes
- Expanding the Phenotype of TUBB2A-Related . . . - Karger Publishers
One of these conditions is TUBB2A -related tubulinopathy Currently, there are 9 reported individuals with pathogenic variants within the TUBB2A gene, with common manifestations including, but not limited to, global developmental delay, seizures, cortical dysplasia, and dysmorphic corpus callosum
- Defining the phenotypical spectrum associated with variants in TUBB2A
In order to further refine the phenotypical spectrum associated with TUBB2A, clinical and imaging features of 12 patients with pathogenic TUBB2A variants, recruited via the international network of the authors, were reviewed
- Editorial: Tubulinopathies: fundamental and clinical challenges
Tubulinopathies are a wide family of neurological disorders caused by mutations in genes encoding tubulins, the structural units of microtubules They represent a growing class of pathologies for which no therapies are currently available
- Defining the phenotypical spectrum associated with variants in
Variants in TUBB2A have been reported in 10 patients with a broad spectrum of brain imaging features, ranging from a normal cortex to polymicrogyria, while one patient has been reported with progressive atrophy of the cerebellar vermis
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