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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Bibliografski detalji
Glavni autori: 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
Jezik:Inglês
Izdano: Nature Publishing Group 2013
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Article
Online pristup: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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