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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Vydáno v:Sci Rep
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
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Article
On-line přístup: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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