Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and barber-say syndromes

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

American Journal of Human Genetics Cambridge v. 97, n. 1, p. 99-110, 2015

Cambridge 2015

Localização: FMRP - Fac. Medicina de Ribeirão Preto    (pcd 2718771 Estantes Deslizantes )(Acessar)