Article
Phenotypic spectrum of COL4A1 mutations: porencephaly to schizencephaly.
Annals of neurology - 1 Jan 2013
Yoneda Yuriko, Haginoya Kazuhiro, Kato Mitsuhiro, Osaka Hitoshi, Yokochi Kenji, Arai Hiroshi, Kakita Akiyoshi, Yamamoto Takamichi, Otsuki Yoshiro, Shimizu Shin-ichi, Wada Takahito, Koyama Norihisa, Mino Yoichi, Kondo Noriko, Takahashi Satoru, Hirabayashi Shinichi, Takanashi Jun-ichi, Okumura Akihisa, Kumagai Toshiyuki, Hirai Satori, Nabetani Makoto, Saitoh Shinji, Hattori Ayako, Yamasaki Mami, Kumakura Akira, Sugo Yoshinobu, Nishiyama Kiyomi, Miyatake Satoko, Tsurusaki Yoshinori, Doi Hiroshi, Miyake Noriko, Matsumoto Naomichi, Saitsu Hirotomo
Abstract excerpt
OBJECTIVE: Recently, COL4A1 mutations have been reported in porencephaly and other cerebral vascular diseases, often associated with ocular, renal, and muscular features. In this study, we aimed to clarify the phenotypic spectrum and incidence of COL4A1 mutations. METHODS: We screened for COL4A1 mutations in 61 patients with porencephaly and 10 patients with schizencephaly, which may be similarly caused by...
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