Article
De novo SOX11 mutations cause Coffin-Siris syndrome.
Nature communications - 2 Jun 2014
Tsurusaki Yoshinori, Koshimizu Eriko, Ohashi Hirofumi, Phadke Shubha, Kou Ikuyo, Shiina Masaaki, Suzuki Toshifumi, Okamoto Nobuhiko, Imamura Shintaro, Yamashita Michiaki, Watanabe Satoshi, Yoshiura Koh-ichiro, Kodera Hirofumi, Miyatake Satoko, Nakashima Mitsuko, Saitsu Hirotomo, Ogata Kazuhiro, Ikegawa Shiro, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
Coffin-Siris syndrome (CSS) is a congenital disorder characterized by growth deficiency, intellectual disability, microcephaly, characteristic facial features and hypoplastic nails of the fifth fingers and/or toes. We previously identified mutations in five genes encoding subunits of the BAF complex, in 55% of CSS patients. Here we perform whole-exome sequencing in additional CSS patients, identifying de novo...
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