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Deletions and loss-of-function variants in TP63 associated with orofacial clefting.

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作者单位: Department of Orthodontics and Craniofacial Biology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands. [1] Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. [2] Department of Genomics, Institute of Human Genetics, Life&Brain Center, University Hospital Bonn, Bonn, Germany. [3] Institute of Human Genetics, University Hospital Bonn, Bonn, Germany. [4] Institute of Biophysical Chemistry and Center for Biomolecular Magnetic Resonance, Goethe University, Frankfurt, Germany. [5] Department of Clinical Genetics, Odense University Hospital, Odense, Denmark. [6] Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands. [7] Department of Molecular Developmental Biology, Radboud Institute for Molecular Life Sciences, Radboud University, Nijmegen, The Netherlands. [8] Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. [9] Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. [10] Department of Public Health, University of Southern Denmark, Odense, Denmark. [11] Department of Oral and Maxillofacial Surgery, University Hospitals KU Leuven, Leuven, Belgium. [12] Department of Oral and Maxillofacial Surgery, Radboud University Medical Center, Nijmegen, The Netherlands. [13] Department of Pediatrics, Carver College of Medicine, University of Iowa, Iowa City, IA, USA. [14] Otorhinolaryngology-Head and Neck Surgery, University Hospitals KU Leuven, Leuven, Belgium. [15] Department of Clinical Genetics, Center for Human Genetics, University Hospitals KU Leuven, Leuven, Belgium. [16] Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, The Netherlands. [17] Department of Orthodontics and Craniofacial Biology, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands. carine.carels@uzleuven.be. [18] Department of Human Genetics, Radboud Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. carine.carels@uzleuven.be. [19] Department of Oral Health Sciences, KU Leuven and University Hospitals KU Leuven, Leuven, Belgium. carine.carels@uzleuven.be. [20] Department of Human Genetics, Centre for Human Genetics, KU Leuven and University Hospitals KU Leuven, Leuven, Belgium. carine.carels@uzleuven.be. [21] Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500 HB, Nijmegen, The Netherlands. Hans.vanBokhoven@radboudumc.nl. [22]
DOI 10.1038/s41431-019-0370-0
PMID 30850703
发布时间 2021-01-09
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European journal of human genetics : EJHG

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