Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
European Journal of Human Genetics, vol. 33, pp. 131–136
Authors 17
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Véronique Pingault corresponding
Hôpital Necker-Enfants Malades · Inserm · Université Paris Cité · Assistance Publique – Hôpitaux de Paris · Institut des Maladies Génétiques Imagine
Affiliation as printed
Laboratoire de Biologie Médicale Multi-Sites SeqOIA, Paris, France. veronique.pingault@inserm.fr
Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France. veronique.pingault@inserm.fr
Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France. veronique.pingault@inserm.fr
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Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris
Affiliation as printed
Chirurgie Maxillofaciale, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France
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Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris
Affiliation as printed
Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France
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Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari
Affiliation as printed
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain
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Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari
Affiliation as printed
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain
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Vall d'Hebron Institut de Recerca · Vall d'Hebron Hospital Universitari
Affiliation as printed
Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
Medical Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain
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Leiden University Medical Center
Affiliation as printed
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
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Leiden University Medical Center
Affiliation as printed
Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands
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Affiliation as printed
Department of Medical Genetics, Le Mans Hospital, Le Mans, France
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Affiliation as printed
Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA
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Affiliation as printed
Medical Genetics Dept, Belfast City Hospital, Belfast, BT9 7AB, UK
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Affiliation as printed
GeneDx, Gaithersburg, MD, USA
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Children's Hospital of Philadelphia · University of Pennsylvania
Affiliation as printed
Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA
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Inserm · Université Paris Cité · Institut des Maladies Génétiques Imagine · Structure fédérative de recherche Necker
Affiliation as printed
Bioinformatic Platform, Institute of Genetic Diseases, INSERM UMR1163, Institut Imagine, Université Paris-Cité and Structure Fédérative de Recherche Necker, 75015, Paris, France
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Hôpital Necker-Enfants Malades · Assistance Publique – Hôpitaux de Paris
Affiliation as printed
Chirurgie Maxillofaciale, Hôpital Necker-Enfants Malades, AP-HP Centre, Paris, France
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Centre National de la Recherche Scientifique · Commissariat à l'Énergie Atomique et aux Énergies Alternatives · Université Paris-Saclay · Institut de Biologie Intégrative de la Cellule
Affiliation as printed
Université Paris-Saclay, CEA, CNRS, Institute for Integrative Biology of the Cell (I2BC), Institute Joliot, Gif-sur-Yvette, France
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Hôpital Necker-Enfants Malades · Inserm · Université Paris Cité · Assistance Publique – Hôpitaux de Paris · Institut des Maladies Génétiques Imagine
Affiliation as printed
Laboratoire « Embryologie et Génétique des Malformations », Institut Imagine, INSERM UMR1163, Université Paris Cité, Paris, France
Service de Médecine Génomique des maladies rares, AP-HP.Centre, Hôpital Necker-Enfants Malades, F-75015, Paris, France
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References 18
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