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Mutations in the [beta]-tubulin gene TUBB2B result in asymmetrical polymicrogyria

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Mutations in the [beta]-tubulin gene TUBB2B result in asymmetrical polymicrogyria

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_20621367

Mutations in the [beta]-tubulin gene TUBB2B result in asymmetrical polymicrogyria

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Publisher

New York: Nature Publishing Group

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Scope and Contents

Contents

Polymicrogyria is a relatively common but poorly understood defect of cortical development characterized by numerous small gyri and a thick disorganized cortical plate lacking normal lamination. Here we report de novo mutations in a β-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bilateral asymmetrical polymicrogyri...

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Full title

Mutations in the [beta]-tubulin gene TUBB2B result in asymmetrical polymicrogyria

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Record Identifier

TN_cdi_proquest_miscellaneous_20621367

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_20621367

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ISSN

1061-4036

E-ISSN

1546-1718

DOI

10.1038/ng.380

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