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, Paldeep 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, Shehla Mohammed, Ellen Moran, Geert R Mortier, Joe-Ann S Moser, Sarah E Noon, M Nozaki, L Nunes, John G Pappas, LS Penney, Antonio Perez Aytes, Michael B Petersen, Beatriz Puisac, N Revencu, Elizabeth Roeder, Kathleen Williamson, David R Fitzpatrick, Matthew A Deardorff

Research output: Contribution to journal › Article › peer-review

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Biochemistry, Genetics and Molecular Biology