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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author: Gabriele Gillessen-Kaesbach, Inga Vater, Raoul Hennekam, Lauren J. Francey, Paldeep S Atwal, John Pappas, David J Amor, Geert Mortier, Peter Diakumis, Jonathan Wilde, Encarna Guillén Navarro, Jolanta Wierzba, Jose Carlos Ferreira, Antonio Musio, Antonio Pérez-Aytés, David FitzPatrick, Juan Pié, Katsuhiko Shirahige, University of Washington Center for Mendelian Genomics, Hakon Hakonarson, Han G. Brunner, Shane McKee, Louanne Hudgins, A. Micheil Innes, Zornitza Stark, Helger G Yntema
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