Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Frank J. Kaiser, Morad Ansari, Diana Braunholz, María Concepción Gil-Rodríguez, Christophe Decroos, Jonathan J. Wilde, Christopher T. Fincher, Maninder Kaur, Masashige Bando, David J. Amor, P. S. Atwal, Melanie Bahlo, Christine M. Bowman, Jacquelyn J. Bradley, Han G. Brunner, Dinah Clark, Miguel Del Campo, Nataliya Di Donato, Peter Diakumis, Holly DubbsDavid A. Dyment, Juliane Eckhold, Sarah Ernst, Jose C. Ferreira, Lauren J. Francey, Ulrike Gehlken, Encarna Guillén-Navarro, Yolanda Gyftodimou, Bryan D. Hall, Raoul Hennekam, Louanne Hudgins, Melanie Hullings, Jennifer M. Hunter, Helger Yntema, A. Micheil Innes, Antonie D. Kline, Zita Krumina, Hane Lee, Kathleen Leppig, Sally Ann Lynch, Mark B. Mallozzi, Linda Mannini, Shane Mckee, Sarju G. Mehta, Ieva Micule, Care Rare Canada Consortium, Shehla Mohammed, Ellen Moran, Geert R. Mortier, Joe Ann S Moser, Sarah E. Noon, Naohito Nozaki, Luis Nunes, John G. Pappas, Lynette S. Penney, Antonio Pérez-Aytés, Michael B. Petersen, Beatriz Puisac, Nicole Revencu, Elizabeth Roeder, Sulagna Saitta, Angela E. Scheuerle, Karen L. Schindeler, Victoria M. Siu, Zornitza Stark, Samuel P. Strom, Heidi Thiese, Inga Vater, Patrick Willems, Kathleen Williamson, Louise C. Wilson, Hakon Hakonarson, Fabiola Quintero-Rivera, Jolanta Wierzba, Antonio Musio, Gabriele Gillessen-Kaesbach, Feliciano J. Ramos, Laird G. Jackson, Katsuhiko Shirahige, Juan Pié, David W. Christianson, Ian D. Krantz, David R. Fitzpatrick, Matthew A. Deardorff

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

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