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Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

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 spe...

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Détails bibliographiques
Auteurs principaux: Guerrini, Renzo, Mei, Davide, Cordelli, Duccio Maria, Pucatti, Daniela, Franzoni, Emilio, Parrini, Elena
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2012
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3421113/
https://ncbi.nlm.nih.gov/pubmed/22333901
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.21
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