| 1 | CSSS7, SOX11 |
| De novo SOX11 mutations cause Coffin-Siris syndrome. | |
| Tsurusaki Y, Koshimizu E, Ohashi H, Phadke S, Kou I, Shiina M, Suzuki T, Okamoto N, Imamura S, Yamashita M, Watanabe S, Yoshiura K, Kodera H, Miyatake S, Nakashima M, Saitsu H, Ogata K, Ikegawa S, Miyake N, Matsumoto N. | |
| Nat Commun 5:4011. doi: 10.1038/ncomms5011. 2014 | |