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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Main Authors: 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
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2013
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Online Access: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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