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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

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第一作者: Gordon,C.T.
作者单位: Respiratory Medicine, Great Ormond Street Hospital, London, United Kingdom [1] Center for Tissue and Cell Sciences, Seattle Children's Research Institute, Seattle, United States [2] Service de Chirurgie Maxillo-Faciale et Plastique, CRMR des Malformations de la Face et de la Cavit [3] Genetics Unit, MassGeneral Hospital for Children, Boston, MA, United States [4] Service de Pédiatrie Générale, Université Paris Descartes, H?pital Necker-Enfants, Malades, Paris [5] AP-HP, Service d'Imagerie Pédiatrique, H?pital Necker-Enfants Malades, Paris, France, Laboratoire d [6] Service d'ORL Pediatrique, H?pital Necker-Enfants Malades, AP-HP, Université Paris 5, Paris, France [7] Department of Oral and Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA, United [8] Institute of Human Genetics, Medical University of Graz, Graz, Austria [9] Centre de Référence des Malformations Cranio-maxillo-faciales Rares, CHRU Lille, France [10] Department of Oral and Maxillofacial Surgery, Kennemer Gasthuis, Haarlem, Netherlands [11] Department of Pediatrics and Adolescence Medicine, Medical University of Graz, Graz, Austria [12] Department of Clinical Genetics, Free University Medical Center, Amsterdam, Netherlands [13] Laboratoire de génétique chromosomique, H?pital St Vincent de Paul, Lille, France [14] Service de Génétique Clinique, H?pital Jeanne de Flandre, CHRU Lille, France [15] AP-HP, Département de Génétique, H?pital Necker-Enfants Malades, Paris, France [16] INSERM U781, H?pital Necker-Enfants Malades, Université Paris Descartes-Sorbonne Paris Cité, [17] Institute for Medical and Molecular Genetics, La Paz University Hospital, Madrid, Spain [18] INSERM UMR-S587 and Pediatric Otolaryngology Department, Armand-Trousseau Children's Hospital, AP [19] North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, United Kingdom [20] Northern Genetics Service, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne [21] West Midlands Regional Genetics Service, Birmingham, United Kingdom [22] School of Medicine, University of Glasgow, Yorkhill Hospital, Glasgow, United Kingdom [23] Department of Plastic and Reconstructive Surgery, Copenhagen University Hospital, Rigshospitalet [24] North Scotland Regional Genetics Service, Ashgrove House, Aberdeen, United Kingdom [25] Centre de référence des surdités génétiques, Service de génétique médicale, H?pital d'Enfants [26] Department of Genetics, Sultan Qaboos University Hospital, Muscat, Oman [27] Department of Genetics, University of Groningen, University Medical Center, Groningen, Groningen [28] Clinical and Molecular Genetics, Institute of Child Health, UCL, London, United Kingdom [29] Pediatric Genetics, Schneider Children's Medical Center of Israel, Raphael Recanati Genetics [30]
发布时间 2013-11-20
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Journal of Medical Genetics

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