Article
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Journal of medical genetics - 1 Aug 2021
Itai Toshiyuki, Miyatake Satoko, Taguri Masataka, Nozaki Fumihito, Ohta Masayasu, Osaka Hitoshi, Morimoto Masafumi, Tandou Tomoko, Nohara Fumikatsu, Takami Yuichi, Yoshioka Fumitaka, Shimokawa Shoko, Okuno-Yuguchi Jiu, Motobayashi Mitsuo, Takei Yuko, Fukuyama Tetsuhiro, Kumada Satoko, Miyata Yohane, Ogawa Chikako, Maki Yuki, Togashi Noriko, Ishikura Teruyuki, Kinoshita Makoto, Mitani Yusuke, Kanemura Yonehiro, Omi Tsuyoshi, Ando Naoki, Hattori Ayako, Saitoh Shinji, Kitai Yukihiro, Hirai Satori, Arai Hiroshi, Ishida Fumihiko, Taniguchi Hidetoshi, Kitabatake Yasuji, Ozono Keiichi, Nabatame Shin, Smigiel Robert, Kato Mitsuhiro, Tanda Koichi, Saito Yoshihiko, Ishiyama Akihiko, Noguchi Yushi, Miura Mazumi, Nakano Takaaki, Hirano Keiko, Honda Ryoko, Kuki Ichiro, Takanashi Jun-Ichi, Takeuchi Akihito, Fukasawa Tatsuya, Seiwa Chizuru, Harada Atsuko, Yachi Yusuke, Higashiyama Hiroyuki, Terashima Hiroshi, Kumagai Tadayuki, Hada Satoshi, Abe Yoshiichi, Miyagi Etsuko, Uchiyama Yuri, Fujita Atsushi, Imagawa Eri, Azuma Yoshiteru, Hamanaka Kohei, Koshimizu Eriko, Mitsuhashi Satomi, Mizuguchi Takeshi, Takata Atsushi, Miyake Noriko, Tsurusaki Yoshinori, Doi Hiroshi, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi
Abstract excerpt
BACKGROUND: Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and the prenatal features of individuals with COL4A1/2 variants remain unclear. METHODS: We examined COL4A1/2 in 218 individuals with suspected COL4A1/2-related brain defects. Among those arising from COL4A1/2 variants, we focused on individuals showing prenatal...
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