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

doi:10.1038/ng.380

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Article

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

Nature genetics - 1 Jun 2009

Jaglin Xavier Hubert, Poirier Karine, Saillour Yoann, Buhler Emmanuelle, Tian Guoling, Bahi-Buisson Nadia, Fallet-Bianco Catherine, Phan-Dinh-Tuy Françoise, Kong Xiang Peng, Bomont Pascale, Castelnau-Ptakhine Laëtitia, Odent Sylvie, Loget Philippe, Kossorotoff Manoelle, Snoeck Irina, Plessis Ghislaine, Parent Philippe, Beldjord Cherif, Cardoso Carlos, Represa Alfonso, Flint Jonathan, Keays David Anthony, Cowan Nicholas Justin, Chelly Jamel

Abstract excerpt

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...

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PMID: 19465910
DOI: 10.1038/ng.380
PMCID: PMC2883584

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