Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Autor: 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
Zdroj: Genetics in Medicine; December 2022, Vol. 24 Issue: 12 p2453-2463, 11p
Abstrakt: 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.
Databáze: Supplemental Index