Publication Date:
2014-06-04
Description:
Article Coffin–Siris syndrome (CSS) is a genetic disorder characterized by growth deficiency, microcephaly, intellectual disability and nail hypoplasia of the fifth digits. Here, the authors identify de novo mutations in the SOX11 gene of CSS patients and show that knockdown of sox11a/b causes brain abnormalities in zebrafish. Nature Communications doi: 10.1038/ncomms5011 Authors: Yoshinori Tsurusaki, Eriko Koshimizu, Hirofumi Ohashi, Shubha Phadke, Ikuyo Kou, Masaaki Shiina, Toshifumi Suzuki, Nobuhiko Okamoto, Shintaro Imamura, Michiaki Yamashita, Satoshi Watanabe, Koh-ichiro Yoshiura, Hirofumi Kodera, Satoko Miyatake, Mitsuko Nakashima, Hirotomo Saitsu, Kazuhiro Ogata, Shiro Ikegawa, Noriko Miyake, Naomichi Matsumoto
Electronic ISSN:
2041-1723
Topics:
Biology
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Chemistry and Pharmacology
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Natural Sciences in General
,
Physics
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