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(Essen University Hospital), Sarah E. Noon, Nataliya Di Donato(University Hospital Carl Gustav Carus), Kathleen A. Leppig(Group Health Cooperative), Holly Dubbs, Antonie D. Kline(Greater Baltimore Medical Center), Diana Braunholz(University of Lübeck), Hane Lee(Orion Corporation (United Kingdom)), Maninder Kaur, Juliane Eckhold(University of Lübeck), Louanne Hudgins(Lucile Packard Children's Hospital), Bryan D. Hall(University of Kentucky), Yolanda Gyftodimou(Institute of Child Health), David A. Dyment(Children's Hospital of Eastern Ontario), Christine M. Bowman(University of Pennsylvania), Jennifer M. Hunter(Institute of Genetics and Cancer), Han G. Brunner(Radboud University Nijmegen), Geert Mortier(Center for Human Genetics), J. Moser(University of Pennsylvania), Morad Ansari(Institute of Genetics and Cancer), Ulrike Gehlken(University of Lübeck), Mark Mallozzi, Shane McKee(Belfast City Hospital), Raoul C. M. Hennekam(University of Amsterdam), A. Micheil Innes(University of Calgary), Masashige Bando(The University of Tokyo), Paldeep S. Atwal(Palm Beach Neurology), Melanie Bahlo(Walter and Eliza Hall Institute of Medical Research), Zita Krūmiņa(Children's Clinical University Hospital), Peter Diakumis(The University of Melbourne), Ieva Mičule(Children's Clinical University Hospital), Lauren J. Francey(Cincinnati Children's Hospital Medical Center), Ellen Moran(New York University Langone Orthopedic Hospital), José Carlos Ferreira(Medical University of Warsaw), Helger G. Yntema(Radboud University Nijmegen), Melanie Hullings(Memorial Sloan Kettering Cancer Center), Jonathan J. Wilde(McGovern Institute for Brain Research), Encarna Guillén‐Navarro(Hospital Universitario Virgen de la Arrixaca), David J. Amor(The University of Melbourne), Jacquelyn J. Bradley, Sally Ann Lynch(University College Dublin), Sarah Ernst, Linda Mannini(Institute of Genetic and Biomedical Research), Miguel Del Campo(Vall d'Hebron Hospital Universitari), Christophe Decroos(University of Pennsylvania), Shehla Mohammed(University of Diyala), María Concepción Gil‐Rodríguez(Universidad de Zaragoza), Christopher T. Fincher, Dinah Clark, Sarju Mehta(Addenbrooke's Hospital)
Cited by 151
Related Papers
Abnormal Behavior Associated with a Point Mutation in the Structural Gene for Monoamine Oxidase A
|Science|1993|1.6k
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
|Nature Genetics|2008|818
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
|New England Journal of Medicine|2008|811