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Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

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第一作者: Reinstein,E.
作者单位: Pediatric Radiology Department, La Paz University Hospital, Madrid, Spain [1] Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago [2] Cardiology Department, Cedars Sinai Medical Center, Los Angeles, CA, United States [3] Cedars-Sinai Medical Center, Medical Genetics Institute, 8700 Beverly Boulevard, Los Angeles, CA [4] Department of Clinical Genetics, North East Thames Regional Genetics Service, Great Ormond Street [5] Pathology Department, La Paz University Hospital, Madrid, Spain [6] Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Royal Children's [7] Department of Cardiology, Women's and Children's Hospital, North Adelaide, SA, Australia [8] South West Thames Regional Genetics Service, St George's Hospital NHS Trust, London, United Kingdom [9] Clinical Genetics Section, Institute for Medical and Molecular Genetics (INGEMM), La Paz University [10] Pediatric Neurology Department, La Paz University Hospital, Madrid, Spain [11] Children's Neuroscience Centre and Murdoch Children's Research Institute, Royal Children's Hospital [12] Medical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, United States [13] North West Thames Regional Genetics Service, UK National Ehlers-Danlos Syndrome Clinic, Northwick [14] South Australian Clinical Genetics Service, SA Pathology at the Women's and Children's Hospital [15] Service de Gene Tique Clinique, H?Pital Jeanne de Flandre, Lille, France [16] Department of Paediatrics and Child Health, Flinders Medical Centre, Bedford Park, SA, Australia [17]
发布时间 2013-11-20
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European journal of human genetics: EJHG

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