换一批De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
第一作者：
Mirzaa,G.M.
作者：
Mirzaa,G.M. [1]
;
Parry,D.A. [2]
;
Fry,A.E. [3]
;
Giamanco,K.A. [4]
;
Schwartzentruber,J. [5]
;
Vanstone,M. [6]
;
Logan,C.V. [7]
;
Roberts,N. [8]
;
Johnson,C.A. [9]
;
Singh,S. [10]
;
Kholmanskikh,S.S. [11]
;
Adams,C. [12]
;
Hodge,R.D. [13]
;
Hevner,R.F. [14]
;
Bonthron,D.T. [15]
;
Braun,K.P.J. [16]
;
Faivre,L. [17]
;
Rivière,J.-B. [18]
;
St-Onge,J. [19]
;
Gripp,K.W. [20]
;
Mancini,G.M.S. [21]
;
Pang,K. [22]
;
Sweeney,E. ;
VanEsch,H. ;
Verbeek,N. ;
Wieczorek,D. ;
Steinraths,M. ;
Majewski,J. ;
Boycott,K.M. ;
Pilz,D.T. ;
Ross,M.E. ;
Dobyns,W.B. ;
Sheridan,E.G. ;
Friedman,J. ;
Michaud,J. ;
Bernier,F. ;
Brudno,M. ;
Fernandez,B. ;
Knoppers,B. ;
Samuels,M. ;
Scherer,S.
作者单位：
Neurogenetics and Development, Feil Family Brain and Mind Research Institute, Weill Cornell Medical
[1]
University of Toronto, Canada
[2]
Institut fur Humangenetik, Universitatsklinikum Essen, Essen, Germany
[3]
Department of Clinical Genetics and Expertise, Centre for Neurodevelopmental Disorders, Erasmus
[4]
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada
[5]
Memorial University, Canada
[6]
Centre de Genetique et Centre de Reference Anomalies du Developpement et Syndromes Malformatifs, H
[7]
McGill University, Genome Quebec Innovation Centre, Montréal, QC, Canada
[8]
McGill University, Canada
[9]
Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, United
[10]
Department of Child Neurology, University Medical Center (UMC) Utrecht, Utrecht, Netherlands
[11]
Department of Paediatric Neurology, Royal Victoria Infirmary, Newcastle-upon Tyne, United Kingdom
[12]
Université de Montreal, Canada
[13]
University of Calgary, Canada
[14]
Université de Bourgogne, Equipe Génétique des Anomalies du Développement (GAD), EA 4271, Dijon
[15]
Institute of Medical Genetics, University Hospital of Wales, Cardiff, United Kingdom
[16]
Department of Clinical Genetics, Liverpool Women's National Health Service (NHS) Foundation Trust
[17]
Division of Medical Genetics, A.I. DuPont Hospital for Children, Wilmington, DE, United States
[18]
Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada
[19]
Department of Medical Genetics, UMC Utrecht, Utrecht, Netherlands
[20]
Leeds Institute of Biomedical and Clinical Science, Wellcome Trust Brenner Building, St. James's
[21]
Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat, Leuven, Belgium
[22]
发布时间
2014-06-29
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Nature Genetics
Nature Genetics
510-515页
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