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Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): Review of phenotype associated with KIF11 mutations

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第一作者: Jones,G.E.
作者: Jones,G.E. [1] ; Ostergaard,P. [2] ; Moore,A.T. [3] ; Connell,F.C. [4] ; Williams,D. [5] ; Quarrell,O. [6] ; Brady,A.F. [7] ; Spier,I. [8] ; Hazan,F. [9] ; Moldovan,O. [10] ; Wieczorek,D. [11] ; Mikat,B. [12] ; Petit,F. [13] ; Coubes,C. [14] ; Saul,R.A. [15] ; Brice,G. [16] ; Gordon,K. ; Jeffery,S. ; Mortimer,P.S. ; Vasudevan,P.C. ; Mansour,S.
作者单位: Clinical Genetics Department, Guys and St Thomas' Hospital, London, United Kingdom [1] Department of Medical Genetics, Arnaud de Villeneuve's Hospital, Montpellier, France [2] Clinical Genetics Department, Birmingham Women's Hospital, Birmingham, United Kingdom [3] Moorfields Eye Hospital, London, United Kingdom [4] Clinical Genetics Department, Kennedy Galton Centre, North West London Hospitals NHS Trust, London [5] Department of Clinical Sciences, St George's University of London, London SW17 0RE, United Kingdom [6] Department of Medical Genetics, Dr Beh?et Uz Children's Hospital, Izmir, Turkey [7] Service de Genetique Clinique, H?pital Jeanne de Flandre, Université Lille Nord de France, Lille [8] South West Thames Regional Genetics Service, St George's Healthcare NHS Trust, London, United [9] Institut für Humangenetik, Universit?tsklinikum Essen, Universit?t Dusiburg-Essen, Essen, Germany [10] Sheffield Clinical Genetics Department, Sheffield Children's NHS Trust, Sheffield, United Kingdom [11] Institute of Human Genetics, University of Bonn, Bonn, Germany [12] Servi?o de Genética Médica, Hospital Santa Maria, Lisbon, Portugal [13] Clinical Genetics Department, University Hospitals of Leicester NHS Trust, Leicester, United Kingdom [14] Children's Hospital, Greenville, SC, United States [15] Human Genetics Research Centre, Biomedical Sciences, St George's University of London, London [16]
发布时间 2014-10-16
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European journal of human genetics: EJHG

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