The purpose of the study is to explore the causative role of TUBB2B gene mutations in patients with different malformations of cortical development. We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI had detected a spectrum of malformations of cortical development including polymicrogyria or pachygyria, who were mutation-negative to other possible causative genes. Mutation analysis of the TUBB2B gene was performed.
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations / Guerrini R; Mei D; Cordelli DM; Pucatti D; Franzoni E; Parrini E.. - In: EUROPEAN JOURNAL OF HUMAN GENETICS. - ISSN 1018-4813. - STAMPA. - 20:(2012), pp. 995-998. [10.1038/ejhg.2012.21]
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations.
GUERRINI, RENZO;
2012
Abstract
The purpose of the study is to explore the causative role of TUBB2B gene mutations in patients with different malformations of cortical development. We collected and evaluated clinical and MRI data of a cohort of 128 consecutive patients (61 females and 67 males) in whom brain MRI had detected a spectrum of malformations of cortical development including polymicrogyria or pachygyria, who were mutation-negative to other possible causative genes. Mutation analysis of the TUBB2B gene was performed.
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