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