2012•Nature GeneticsRequires access

Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome

Yoshinori Tsurusaki, Nobuhiko Okamoto, Hirofumi Ohashi, Tomoki Kosho, Yoko Imai, Yumiko Hibi‐Ko, Tadashi Kaname, Kenji Naritomi, Hiroshi Kawame, Keiko Wakui, Yoshimitsu Fukushima, Tomomi Homma, Mitsuhiro Kato, Yoko Hiraki, Takanori Yamagata, Shoji Yano, Seiji Mizuno, Satoru Sakazume, Takuma Ishii, Toshiro Nagai, Masaaki Shiina, Kazuhiro Ogata, Tohru Ohta, Norio Niikawa, Satoko Miyatake, Ippei Okada, Takeshi Mizuguchi, Hiroshi Doi, Hirotomo Saitsu, Noriko Miyake, Naomichi Matsumoto

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Key concepts: SMARCB1, SMARCA4, ARID1A, SWI/SNF, Biology, Genetics, Mutation, Germline