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. TsokosChyi-Chia R. Lee, Victor 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, Cedric 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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)99-110
JournalAmerican Journal of Human Genetics
Volume97
Issue number1
DOIs
Publication statusPublished - 2 Jul 2015

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