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Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus.

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第一作者: Uirá Souto,Melo
第一单位: Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.;Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.
作者单位: Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.;Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. [1] Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. [2] Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. [3] Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany. [4] Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.;Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany. [5] Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany. [6] Departments of Obstetrics and Gynecology, Pathology, and Biology, University Hospital, University of Franche-Comte, Besançon, France. [7] Departments of Obstetrics and Gynecology, Pathology, and Biology, University Hospital, University of Franche-Comte, Besançon, France.;Department of Obstetrics and Gynecology, University Hospital Grenoble-Alpes, Grenoble, France. [8] Department of Obstetrics and Gynecology, University Hospital Grenoble-Alpes, Grenoble, France. [9] Department of Medical Genetics, University Hospital, University Champagne-Ardennes, Reims, France.;Laboratory of Cytogenetics, University Hospital, University of Strasbourg, Strasbourg, France.;Department of Medical Genetics, University Hospital, Geneva, Switzerland. [10] Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. [11] Institute of Human Genetics, Universitätsmedizin Göttingen, Göttingen, Germany. [12] Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany.;Institute of Human Genetics, University of Lübeck, Lübeck, Germany. [13] Max Planck Institute for Molecular Genetics, RG Development and Disease, Berlin, Germany. stefan.mundlos@charite.de.;Institute of Medical Genetics and Human Genetics, Charité-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany. stefan.mundlos@charite.de. [14] Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France.;Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.;Center of Clinical Investigation (CIC), National Institute of Health and Medical Research (INSERM), CHU, Besançon, France. [15]
DOI 10.1007/s00439-021-02344-6
PMID 34436670
发布时间 2022-02-18
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