Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features.

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第一作者： J S,Cohen

第一单位： Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA.

作者： J S,Cohen ^[1] ; S,Srivastava ^[1] ; K D,Farwell Hagman ^[2] ; D N,Shinde ^[3] ; R,Huether ^[4] ; D,Darcy ^[4] ; R,Wallerstein ^[5] ; G,Houge ^[6] ; S,Berland ^[7] ; K G,Monaghan ^[8] ; A,Poretti ^[9] ; A L,Wilson ^[8] ; W K,Chung ^[9] ; A,Fatemi ^[10]

作者单位： Division of Neurogenetics, Hugo W. Moser Research Institute, Kennedy Krieger Institute, Baltimore, MD, USA. ^[1] Department of Neurology, The Johns Hopkins Hospital, Baltimore, MD, USA. ^[2] Department of Pediatrics, The Johns Hopkins Hospital, Baltimore, MD, USA. ^[3] Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA. ^[4] Department of Bioinformatics, Ambry Genetics, Aliso Viejo, CA, USA. ^[5] Silicon Valley Genetics Center, Santa Clara Valley Medical Center, San Jose, CA, USA. ^[6] Hawaii Community Genetics, Kapiolani Medical Center for Women and Children, Honolulu, HI, USA. ^[7] Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway. ^[8] Department of Medical Genetics, St. Olav Hospital, Trondheim, Norway. ^[9] GeneDx, Gaithersburg, MD, USA. ^[10] Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, The Johns Hopkins Hospital, Baltimore, MD, USA. ^[11] Department of Clinical Genetics, New York Presbyterian Hospital, New York, NY, USA. ^[12] Department of Pediatrics, Columbia University, New York, NY, USA. ^[13] Department of Medicine, Columbia University, New York, NY, USA. ^[14]

关键词 ZBTB18 ZNF238 cerebellar vermis hypoplasia corpus callosum abnormalities intellectual disability microcephaly