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Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs.

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第一作者： Roy,Jung

第一单位： Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.;Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.

作者： Roy,Jung ^[1] ; Yejin,Lee ^[1] ; Douglas,Barker ^[1] ; Kevin,Correia ^[1] ; Baehyun,Shin ^[1] ; Jacob,Loupe ^[1] ; Ryan L,Collins ^[2] ; Diane,Lucente ^[1] ; Jayla,Ruliera ^[1] ; Tammy,Gillis ^[1] ; Jayalakshmi S,Mysore ^[1] ; Lance,Rodan ^[3] ; Jonathan,Picker ^[4] ; Jong-Min,Lee ^[1] ; David,Howland ^[5] ; Ramee,Lee ^[5] ; Seung,Kwak ^[5] ; Marcy E,MacDonald ^[6] ; James F,Gusella ^[7] ; Ihn Sik,Seong ^[1]

作者单位： Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.;Department of Neurology, Harvard Medical School, Boston, MA 02114, USA. ^[1] Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.;Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.;Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA 02114, USA. ^[2] Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.;Department of Neurology, Boston Children's Hospital, Harvard Medical School, MA 02115, USA. ^[3] Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA.;Department of Child and Adolescent Psychiatry, Boston Children's Hospital, Harvard Medical School, MA 02115, USA. ^[4] CHDI Management/CHDI Foundation Inc., Princeton, NJ 08540, USA. ^[5] Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.;Department of Neurology, Harvard Medical School, Boston, MA 02114, USA.;Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA. ^[6] Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.;Medical and Population Genetics Program, The Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.;Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA. ^[7]