Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Marchegiani Shannon;Davis Taylor;Tessadori Federico;Van Haaften Gijs;Brancati Francesco;Hoischen Alexander;Huang Haigen;Valkanas Elise;Pusey Barbara;Schanze Denny;Venselaar Hanka;Vulto-Van Silfhout Anneke T.;Wolfe Lynne A.;Tifft Cynthia J.;Zerfas Patricia M.;Zambruno Giovanna;Kariminejad Ariana;Sabbagh-Kermani Farahnaz;Lee Janice;Tsokos Maria G.;Lee Chyi-Chia R.;Ferraz Victor;Da Silva Eduarda Morgana;Stevens Cathy A.;Roche Nathalie;Bartsch Oliver;Farndon Peter;Bermejo-Sanchez Eva;Brooks Brian P.;Maduro Valerie;Dallapiccola Bruno;Ramos Feliciano J.;Chung Hon-Yin Brian;Le Caignec Cédric;Martins Fabiana;Jacyk Witold K.;Mazzanti Laura;Brunner Han G.;Bakkers Jeroen;Lin Shuo;Malicdan May Christine V.;Boerkoel Cornelius F.;Gahl William A.;De Vries Bert B. A.;Van Haelst Mieke M.;Zenker Martin;Markello Thomas C.

2015-01-01