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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Veröffentlicht in:	Scientific reports 2015-10, Vol.5 (1), p.15165-15165, Article 15165
Hauptverfasser:	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:	Artikel
Sprache:	eng
Schlagworte:	13/109 13/51 14/63 45/23 59/57 692/308/2056 692/617/375/2764 Child, Preschool Cortex Exome Female Fibroblasts Humanities and Social Sciences Humans Hydranencephaly Hydranencephaly - genetics Hydrocephalus Immunofluorescence Lissencephaly Male Malformations of Cortical Development - genetics Microtubules Missense mutation multidisciplinary Mutation Parenchyma Science Sequence Analysis Tubulin - genetics
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