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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Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2015
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Article
Online adgang: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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