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

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

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...

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التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Jaglin, X, Poirier, K, Saillour, Y, Buhler, E, Tian, G, Bahi-Buisson, N, Fallet-Bianco, C, Phan-Dinh-Tuy, F, Kong, X, Bomont, P, Castelnau-Ptakhine, L, Odent, S, Loget, P, Kossorotoff, M, Snoeck, I, Plessis, G, Parent, P, Beldjord, C, Cardoso, C, Represa, A, Flint, J, Keays, D, Cowan, N, Chelly, J
التنسيق: Journal article
اللغة:English
منشور في: 2009

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