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Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

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作者单位: MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK. [1] Avdeling for Medisinsk Genetikk, Oslo Universitetssykehus, Oslo, Norway. [2] Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK. [3] North East Regional Genetics Service, Great Ormond Street Hospital, London, UK. [4] National Centre for Medical Genetics, Our Lady's Children's Hospital, Dublin, Ireland. [5] South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK. [6] Clinical Genetics Unit, Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. [7] Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation, Cambridge, UK. [8] Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK. [9] West of Scotland Genetic Services, Queen Elizabeth University Hospital, Glasgow, UK. [10] South East Thames Regional Genetics Service, Guy's and St Thomas' NHS Foundation Trust, London, UK. [11] Genetic Medicine, North West Regional Genetics Service, Manchester, UK. [12] Department of Clinical Genetics, St Georges Hospital, Tooting, UK. [13] Cheshire &Merseyside Regional Genetics Service, Liverpool Women's NHS foundation Trust, Liverpool, UK. [14] West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham, UK. [15] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK. [16] South-East Scotland Regional Genetics Laboratories, Western General Hospital, Edinburgh, UK. [17] Wellcome Trust Sanger Institute, Wellcome Genome Campus, Cambridge, UK. [18] Spires Cleft Centre, John Radcliffe Hospital, Oxford, UK. [19] Nuffield Department of Obstetrics &Gynaecology, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford, UK. [20] Department of Engineering Science, University of Oxford, Institute of Biomedical Engineering, Oxford, UK. [21] Big Data Institute, University of Oxford, Oxford, UK. [22]
DOI 10.1038/gim.2016.211
PMID 28151491
发布时间 2023-08-07
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Genetics in medicine : official journal of the American College of Medical Genetics

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