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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Publicado en:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2015
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Article
Acceso en liña: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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