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Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

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第一作者: Leonie A,Menke
第一单位: Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
作者单位: Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands. [1] Wellcome Trust Sanger Institute, Wellcome Genome, Campus, United Kingdom. [2] Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. [3] Big Data Institute and Nuffield Department of Obstetrics and Gynaecology, University of Oxford, Oxford, United Kingdom. [4] Department of Medical genetics, Oslo University Hospital, Oslo, Norway. [5] Center for medical genetics and molecular medicine, Haukeland University Hospital, Bergen, Norway. [6] Division of Genetics and Metabolism, Children's National Health System, Washington, District Of Columbia. [7] Division of Genomic Medicine, Department of Pathology, Children's Hospital Los Angeles and Keck USC School of Medicine, Los Angeles, California. [8] Center for medical genetics and molecular medicine, Haukeland University Hospital, Bergen, Norway.;K.G. Jebsen Centre for Neuropsychiatric Disorders, The Department of Clinical Science, University of Bergen, Bergen, Norway. [9] Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. [10] West of Scotland Genetics Service, Queen Elizabeth University Hospitals, Glasgow. [11] Department of Clinical Genetics, University Hospitals Bristol, Bristol. [12] Department of Experimental Medicine, Sapienza, University of Rome Rome, Italy. [13] Birmingham Women's Hospital, Birmingham, United Kingdom. [14] Department of Pediatric Endocrinology/Genetics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai Institute for Pediatric Research, Shanghai, China. [15] Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy. [16] Department of Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands. [17] University of Groningen, University Medical Center Groningen, Department of Genetics, Groningen, The Netherlands. [18]
DOI 10.1002/ajmg.a.38626
PMID 29460469
发布时间 2020-09-30
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American journal of medical genetics. Part A

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