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GATAD2B-associated neurodevelopmental disorder (GAND): clinical and molecular insights into a NuRD-related disorder.

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第一作者： Christine,Shieh

第一单位： David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

作者： Christine,Shieh ^[1] ; Natasha,Jones ^[2] ; Brigitte,Vanle ^[3] ; Margaret,Au ^[4] ; Alden Y,Huang ^[5] ; Ana P G,Silva ^[2] ; Hane,Lee ^[6] ; Emilie D,Douine ^[7] ; Maria G,Otero ^[8] ; Andrew,Choi ^[8] ; Katheryn,Grand ^[9] ; Ingrid P,Taff ^[10] ; Mauricio R,Delgado ^[11] ; M J,Hajianpour ^[12] ; Andrea,Seeley ^[13] ; Luis,Rohena ^[14] ; Hilary,Vernon ^[15] ; Karen W,Gripp ^[16] ; Samantha A,Vergano ^[17] ; Sonal,Mahida ^[18] ; Sakkubai,Naidu ^[19] ; Ana Berta,Sousa ^[20] ; Karen E,Wain ^[21] ; Thomas D,Challman ^[21] ; Geoffrey,Beek ^[22] ; Donald,Basel ^[23] ; Judith,Ranells ^[24] ; Rosemarie,Smith ^[25] ; Roman,Yusupov ^[26] ; Mary-Louise,Freckmann ^[27] ; Lisa,Ohden ^[28] ; Laura,Davis-Keppen ^[29] ; David,Chitayat ^[30] ; James J,Dowling ^[31] ; Richard,Finkel ^[32] ; Andrew,Dauber ^[33] ; Rebecca,Spillmann ^[34] ; Loren D M,Pena ^[35] ; Undiagnosed Diseases Network ^[36] ; Kay,Metcalfe ^[37] ; Miranda,Splitt ^[38] ; Katherine,Lachlan ^[39] ; Shane A,McKee ^[40] ; Jane,Hurst ^[41] ; David R,Fitzpatrick ^[42] ; Jenny E V,Morton ^[42] ; Helen,Cox ^[43] ; Sunita,Venkateswaran ^[44] ; Juan I,Young ^[45] ; Eric D,Marsh ^[7] ; Stanley F,Nelson ^[46] ; Julian A,Martinez ^[47] ; John M,Graham ^[48] ; Usha,Kini ^[2] ; Joel P,Mackay ^[49] ; Tyler Mark,Pierson

作者单位： David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. ^[1] School of Life and Environmental Sciences, University of Sydney, Sydney, NSW, Australia. ^[2] Department of Psychiatry & Behavioral Neurosciences, Cedars-Sinai Medical Center, Los Angeles, CA, USA.;Medical College of Wisconsin-Central Wisconsin, Wausau, WI, USA. ^[3] Department of Pediatrics Cedars-Sinai Medical Center, Los Angeles, CA, USA. ^[4] Institute for Precision Health, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA. ^[5] Department of Human Genetics and Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA. ^[6] Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA. ^[7] Board of Governor's Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. ^[8] Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. ^[9] Department of Neurology, Hofstra School of Medicine, Great Neck, NY, USA. ^[10] Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center and Texas Scottish Rite Hospital for Children, Dallas, TX, USA. ^[11] Department of Pediatrics, Division of Medical Genetics, East Tennessee State University, Quillen College of Medicine, Mountain Home, TN, USA. ^[12] Geisinger Medical Center, Danville, PA, USA. ^[13] Division of Genetics, Department of Pediatrics, Brooke Army Medical Center, Fort Sam Houston, TX, USA.;Department of Pediatrics, UT Health San Antonio, Long School of Medicine, San Antonio, TX, USA. ^[14] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, Balitmore, MD, USA. ^[15] Division of Medical Genetics, Al DuPont Hospital for Children, Wilmington, DE, USA. ^[16] Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA. ^[17] Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA. ^[18] Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD, USA.;Hugo Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA. ^[19] Serviço de Genética Médica, Hospital Santa Maria, CHULN, Lisboa, Portugal and Faculdade de Medicina de Lisboa, Universidade de Lisboa, Lisboa, Portugal. ^[20] Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA. ^[21] Children's Hospitals and Clinics of Minnesota Department of Genetics, Minneapolis, MN, USA. ^[22] Department of Pediatrics, Division of Genetics; Children's Hospital of Wisconsin, Milwaukee, WI, USA. ^[23] Division of Genetics and Metabolism, Department of Pediatrics, University of South Florida, Tampa, FL, USA. ^[24] Department of Pediatrics, Division of Genetics, Maine Medical Center, Portland, ME, USA. ^[25] Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FlL, USA. ^[26] Royal North Shore Hospital, St Leonards, NSW, Australia. ^[27] Department of Genetic Counseling, Sanford Children's Specialty Clinic, Sioux Falls, SD, USA. ^[28] Department of Pediatrics, Sanford School of Medicine of the University of South Dakota, Sioux Falls, SD, USA. ^[29] The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, ON, Canada.;Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada. ^[30] Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada. ^[31] Division of Pediatric Neurology, Department of Pediatrics, Nemours Children's Hospital, Orlando, FL, USA. ^[32] Division of Endocrinology, Children's National Health System, Washington, DC, USA. ^[33] Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA. ^[34] Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.;Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA. ^[35] Manchester Centre for Genomic Medicine, Manchester University NHS FT, Manchester, UK. ^[36] Institute of Genetic Medicine, Northern Genetics Service, Newcastle upon Tyne Hospitals Trust, Newcastle, UK. ^[37] Faculty of Medicine, University of Southampton, Southampton, UK.;Human Development and Health Division, Wessex Clinical Genetics Service, University Hospitals of Southampton NHS Trust, Southampton, UK. ^[38] Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, UK. ^[39] Department of Clinical Genetics, NE Thames Genetics Service, Great Ormond Street Hospital, London, UK. ^[40] Medical Research Council Human Genetics Unit, University of Edinburgh, Edinburgh, UK. ^[41] West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham, UK.;Birmingham Women's and Children's Hospitals NHS Foundation Trust, Birmingham, UK.;Birmingham Women's Hospital, Edgbaston, Birmingham, UK. ^[42] Division of Neurology, Department of Pediatrics, Children's Hospital of Eastern Ontario, University of Ottawa, Ottawa, ON, Canada. ^[43] John P Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL, USA. ^[44] Division of Neurology, Children's Hospital of Philadelphia and Department of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA. ^[45] Department of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA. ^[46] Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. ^[47] Oxford Centre for Genomic Medicine, Oxford University Hospital NHS Foundation Trust, Oxford, UK. ^[48] Department of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.;Department of Neurology, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org.;Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA. Tyler.Pierson@cshs.org. ^[49]

关键词 GATAD2B; NuRD complex; apraxia of speech; chromatin remodeling; macrocephaly