TUBA1A mutation can cause a hydranencephaly-like severe form of cortical dysgenesis

TUBA1A mutations cause a wide spectrum of lissencephaly and brain malformations. Here, we report two patients with severe cortical dysgeneses, one with an extremely thin cerebral parenchyma apparently looking like hydranencephaly and the other with lissencephaly accompanied by marked hydrocephalus,...

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Pubblicato in:Sci Rep
Autori principali: Yokoi, Setsuri, Ishihara, Naoko, Miya, Fuyuki, Tsutsumi, Makiko, Yanagihara, Itaru, Fujita, Naoko, Yamamoto, Hiroyuki, Kato, Mitsuhiro, Okamoto, Nobuhiko, Tsunoda, Tatsuhiko, Yamasaki, Mami, Kanemura, Yonehiro, Kosaki, Kenjiro, Kojima, Seiji, Saitoh, Shinji, Kurahashi, Hiroki, Natsume, Jun
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2015
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4615979/
https://ncbi.nlm.nih.gov/pubmed/26493046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep15165
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