Article
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2022
Sakamoto Masamune, Iwama Kazuhiro, Sasaki Masayuki, Ishiyama Akihiko, Komaki Hirofumi, Saito Takashi, Takeshita Eri, Shimizu-Motohashi Yuko, Haginoya Kazuhiro, Kobayashi Tomoko, Goto Tomohide, Tsuyusaki Yu, Iai Mizue, Kurosawa Kenji, Osaka Hitoshi, Tohyama Jun, Kobayashi Yu, Okamoto Nobuhiko, Suzuki Yume, Kumada Satoko, Inoue Kenji, Mashimo Hideaki, Arisaka Atsuko, Kuki Ichiro, Saijo Harumi, Yokochi Kenji, Kato Mitsuhiro, Inaba Yuji, Gomi Yuko, Saitoh Shinji, Shirai Kentaro, Morimoto Masafumi, Izumi Yuishin, Watanabe Yoriko, Nagamitsu Shin-Ichiro, Sakai Yasunari, Fukumura Shinobu, Muramatsu Kazuhiro, Ogata Tomomi, Yamada Keitaro, Ishigaki Keiko, Hirasawa Kyoko, Shimoda Konomi, Akasaka Manami, Kohashi Kosuke, Sakakibara Takafumi, Ikuno Masashi, Sugino Noriko, Yonekawa Takahiro, Gürsoy Semra, Cinleti Tayfun, Kim Chong Ae, Teik Keng Wee, Yan Chan Mei, Haniffa Muzhirah, Ohba Chihiro, Ito Shuuichi, Saitsu Hirotomo, Saida Ken, Tsuchida Naomi, Uchiyama Yuri, Koshimizu Eriko, Fujita Atsushi, Hamanaka Kohei, Misawa Kazuharu, Miyatake Satoko, Mizuguchi Takeshi, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
PURPOSE: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects. METHODS: Patients with CBHA in 176 families were genetically examined using exome sequencing....
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