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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Published in Hum Mol Genet on January 08, 2014

Authors

Frank J Kaiser1, 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 Dubbs, David 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, Care4Rare 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, University of Washington Center for Mendelian Genomics, 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

Author Affiliations

1: Sektion für Funktionelle Genetik am Institut für Humangenetik, Universität zu Lübeck, Lübeck 23538, Germany.

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