Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria

De novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders, ranging from lissencephaly to perisylvian pachygyria. Recently, one family with polymicrogyria (PMG) and mutation in TUBA1A was reported. Hence, the purpose of our study was to determine the fre...

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書誌詳細
主要な著者: Poirier, Karine, Saillour, Yoann, Fourniol, Franck, Francis, Fiona, Souville, Isabelle, Valence, Stéphanie, Desguerre, Isabelle, Marie Lepage, Jean, Boddaert, Nathalie, Line Jacquemont, Marine, Beldjord, Cherif, Chelly, Jamel, Bahi-Buisson, Nadia
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2013
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598328/
https://ncbi.nlm.nih.gov/pubmed/22948023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.195
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