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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation.

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第一作者: Karim,Kouz
第一单位: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
作者单位: Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. [1] Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany. [2] Praxis für Humangenetik, Bremen, Germany. [3] Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany. [4] Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany. [5] Sección de Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, IMIB-Arrixaca, Murcia, Spain.;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Madrid, Spain. [6] Department of Medical Genetics, Medical Faculty, Namık Kemal University, Tekirdag, Turkey. [7] Sozialpädiatrisches Zentrum Coburg, Coburg, Germany. [8] Institute of Human Genetics, Heidelberg University, Heidelberg, Germany. [9] Department of Child Neurology, Justus-Liebig-University, Giessen, Germany. [10] Facharztzentrum Pädiatrie und Humangenetik, Martin Luther Universität Halle-Wittenberg, Halle (Saale), Germany. [11] Institut für Klinische Genetik, TU Dresden, Dresden, Germany.;Department for Congenital Heart Disease and Pediatric Cardiology, University Hospital of Schleswig-Holstein, Kiel, Germany. [12] Darmstädter Kinderkliniken, University Hospital Frankfurt, Frankfurt, Germany. [13] Institute of Human Genetics, Martin Luther University Halle-Wittenberg, Halle (Saale), Germany. [14] Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Cochin, India. [15] Praxis für Humangenetik, München, Germany. [16] Department of Biology and Medical Genetics, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic. [17] Institut für Humangenetik, Klinikum rechts der Isar, Technische Universität München, München, Germany. [18] Institute of Human Genetics, Ludwig-Maximilian University, Munich, Germany. [19] Praxis für Kinder- und Jugendmedizin, Volkach, Germany. [20] Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.;Centre for Pediatric and Adolescent Medicine, University Hospital Freiburg, Freiburg, Germany. [21]
DOI 10.1038/gim.2016.32
PMID 27101134
发布时间 2022-02-10
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Genetics in medicine : official journal of the American College of Medical Genetics

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