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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly.

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第一作者: Amama,Ghaffar
第一单位: Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA.;Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
作者单位: Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA.;Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan. [1] Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, Oslo, Norway. [2] Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway. [3] Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, 28420, Khyber, Pakhtunkhwa, Pakistan.;Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübinge, 72076, Germany.;Alexander von Humboldt Fellowship Foundation, Berlin, 10117, Germany. [4] Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan. [5] Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000, Nantes, France. [6] Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan. [7] INSERM UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Université de Bourgogne Franche-Comté, Dijon, France. [8] INSERM UMR1231 GAD "Génétique des Anomalies du Développement", FHU-TRANSLAD, Université de Bourgogne Franche-Comté, Dijon, France.;National Center of Genetics (NCG), Laboratoire national de santé (LNS), 1, rue Louis Rech, L-3555, Dudelange, Luxembourg. [9] Department of Pediatrics, CHU de Nice, Fondation Lenval, Nice, France. [10] Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada. [11] Institute of Neurogenomics, Helmholtz Munich, Neuherberg, Germany.;Institute of Human Genetics, Technical University of Munich, School of Medicine, Munich, Germany.;Institute for Advanced Study, Technical University of Munich, Lichtenbergstrasse 2 a, D-85748, Garching, Germany. [12] First Department of Neurology, Faculty of Medicine, St. Anne's University Hospital, and CEITEC, Masaryk University, Brno, Czech Republic. [13] Department of Neurology, Charles University, First Faculty of Medicine and General University Hospital in Prague, Prague, Czech Republic. [14] Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA. [15] Jinnah Burn and Reconstructive Surgery Centre, Allama Iqbal Medical Research, University of Health Sciences, Lahore, Pakistan. [16] Department of Otorhinolaryngology-Head & Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA. sriazuddin@som.umaryland.edu. [17]
DOI 10.1038/s42003-024-06466-1
PMID 38977784
发布时间 2024-12-19
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Communications biology

Communications biology

2024年7卷1期

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