Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin–Siris syndrome
Annmarie Hempel, Alistair T Pagnamenta, Moira Blyth, Sahar Mansour, Vivienne McConnell, Ikuyo Kou, Shiro Ikegawa, Yoshinori Tsurusaki, Naomichi Matsumoto, Adriana Lo-Castro, Ghislaine Plessis, Beate Albrecht, Agatino Battaglia, Jenny C Taylor, Malcolm F Howard, David Keays, Aman Singh Sohal, DDD collaboration, Susanne J Kühl, Usha Kini, Alisdair McNeill
Journal of Medical Genetics Mar 2016, 53 (3) 152-162; DOI: 10.1136/jmedgenet-2015-103393
