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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog

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第一作者: Solomon,B.D.
作者单位: Division of Medical Genetics, University of Arkansas for Medical Sciences, Little Rock, AR, United [1] Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), Maastricht [2] Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health [3] Molecular Genetics Pathology, Pathology and Laboratory Medicine Institute, Cleveland Clinic [4] Center for Human Genetics, University of Regensburg, Regensburg, Germany, Department of Human [5] Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON, Canada [6] Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Turkey [7] Department of Pediatrics, University of California, Irvine, CA, United States [8] CHU Rennes, Laboratoire de Génétique Moléculaire, Rennes, France, CNRS, UMR 6290,, Institut Gén [9] CNRS, UMR 6290,, Institut Génétique et Développement de Rennes, Université de Rennes 1, UEB, IFR [10] Centro de Genetica Medica, Instituto Fernandes Figueira-FIOCRUZ, Rio de Janeiro, Brazil [11] Genetics Division, Einstein Medical Center, Philadelphia, PA, United States [12] Prevention Genetics, Marshfield, WI, United States [13] Texas Scottish Rite Hospital for Children, Dallas, TX, United States [14] Section of Genetics, Department of Pediatrics, Children's Mercy Hospitals and Clinics, Kansas City [15] Department of Medical Genetics, School of Medical Sciences, Universidade Estadual de Campinas [16] Department of Human Genetics Corner Hospital and De Korte, Johannesburg, South Africa [17] Division of Medical Genetics, Department of Pediatrics, Saint Louis University, St. Louis, MO [18] Genetics Institute, Emek Medical Center, Afula, Israel, Rappaport faculty of Medicine, Technion [19] Division of Human Genetics, Department of Pediatrics, Cincinnati Children's Hospital Medical Center [20] Clinical Genetics Unit, SA Pathology, Women's and Children's Hospital and University of Adelaide [21] Department of Obstetrics and Gynecology, Stanford University School of Medicine/Lucile, Packard [22] GeneDx, Gaithersburg, MD, United States [23] Genetics and Prenatal Diagnostic Center, Corpus Christi, TX, United States [24] Institute of Human Genetics, Heidelberg University, Heidelberg, Germany [25] Genetics Department, Kaiser Permanente, Sacramento, CA, United States [26] Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel [27] Department of Pediatrics, University of North Carolina, Chapel Hill, NC, United States, Department [28] Division of Medical Genetics, Children's Hospital of Pittsburgh, Pittsburgh, PA, United States [29] Department of Pediatrics, Northwestern University Feinberg School of Medicine and Division of [30]
发布时间 2013-11-20
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Journal of Medical Genetics

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