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DYNC2H1 Mutations Cause Asphyxiating Thoracic Dystrophy and Short Rib-Polydactyly Syndrome, Type III |
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| Authors: | Nathalie Dagoneau Marie Goulet David Geneviève Jelena Martinovic Céline Huber Elisabeth Flori Denise Cavalcanti Valérie Serre Arnold Munnich |
| Institution: | 1 Département de Génétique, Unité INSERM U781, Université Paris Descartes, Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Necker-Enfants Malades, 75015 Paris, France 2 Pediatric Clinical Genetics, Hôpital Universitaire des Enfants Reine Fabiola and Center for Human Genetics, U.L.B., 1020 Brussels, Belgium 3 Department of Clinical Genetics, St Michael's Hospital, Bristol BS2 8EG, UK 4 Service de Cytogénétique, Hôpital de Hautepierre, 67091 Strasbourg, France 5 Department of Gynaecology and Obstetrics, Brugmann University Hospital, CHU Brugmann, 1020 Brussels, Belgium 6 Department of Developmental Biology, Université Paris Diderot, AP-HP, Hôpital Robert Debré, 75935 Paris, France |
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