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Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria.

Abstract:

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 beta-tubulin gene, TUBB2B, in four individuals and a 27-gestational-week fetus with bilateral asymmetrical polymicrogyria. Neuropathological examination of the fetus revealed an absence of cortical lamination associated with the presence of ectopic neuronal cells ...

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Publication status:
Published

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Publisher copy:
10.1038/ng.380

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Journal:
Nature genetics More from this journal
Volume:
41
Issue:
6
Pages:
746-752
Publication date:
2009-06-01
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Language:
English
Keywords:
Pubs id:
pubs:41188
UUID:
uuid:ccb8c582-c033-4b35-98e7-902fae8d1e92
Local pid:
pubs:41188
Source identifiers:
41188
Deposit date:
2012-12-19

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