Brain malformations and mutations inα- andβ-tubulin genes: a review of the literature and description of two new cases
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Title
Brain malformations and mutations inα- andβ-tubulin genes: a review of the literature and description of two new cases
Authors
Keywords
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Journal
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Volume 56, Issue 4, Pages 354-360
Publisher
Wiley
Online
2014-01-07
DOI
10.1111/dmcn.12370
References
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Related references
Note: Only part of the references are listed.- Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
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- A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance
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- Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
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- An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation
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- Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
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- High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations
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- Congenital Bilateral Perisylvian Syndrome in a Monozygotic Twin with Intra-uterine Death ot the Co-twin
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