FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
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| Title: | FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects. |
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| Authors: | Cospain A; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France. Electronic address: auriane.cospain@gmail.com., Rivera-Barahona A; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Dumontet E; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France., Gener B; Department of Genetics, Biocruces Bizkaia Health Research Institute, Cruces University Hospital, Barakaldo, Spain., Bailleul-Forestier I; Department of Pediatric Dentistry, Competence Center of Rare Oral Diseases, Faculty of Odontology, Paul Sabatier University, CHU, Toulouse, France., Meyts I; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Jouret G; National Center of Genetics (NCG), Laboratoire National de Santé (LNS), Dudelange, Luxemburg., Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Brewer C; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Wuyts W; Department of Medical Genetics, University of Antwerp and University Hospital of Antwerp, Edegem, Belgium., Moens L; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium., Delafontaine S; Laboratory for Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, Leuven, Belgium; Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Keung Lam WW; South East of Scotland Clinical Genetics Service, Western General Hospital, Edinburgh, United Kingdom., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Boogaerts A; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Scalais E; Department of Pediatric Neurology, Centre Hospitalier de Luxembourg, Luxemburg., Besnard T; Service de Génétique Médicale, CHU de Nantes, Nantes, France., Cogne B; Service de Génétique Médicale, CHU de Nantes, Nantes, France; Institut du Thorax, Nantes Université, CHU de Nantes, CNRS, INSERM, Nantes, France., Guissard C; RESTORE Research Center, Université de Toulouse, INSERM 1301, CNRS 5070, EFS, ENVT, Toulouse, France., Rollier P; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Carre W; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Bouvet R; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France., Tarte K; Laboratoire d'Immunologie - Thérapie Cellulaire et Hématopoïèse, CHU, Rennes, France., Gómez-Carmona R; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Lapunzina P; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Genética Médica y Molecular (INGEMM)-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain., Odent S; Service de Génétique Clinique, Centre de Référence CLAD-Ouest, ERN ITHACA, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Faoucher M; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, CHU, Rennes, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, France., Ruiz-Pérez VL; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Instituto de Investigaciones Biomédicas Alberto Sols, CSIC-Universidad Autónoma de Madrid, Madrid, Spain., Devriendt K; Center for Human Genetics, University Hospitals Leuven, KU Leuven, Leuven, Belgium., Pasquier L; Service de Génétique Clinique, Centre Référence Déficiences des Intellectuelles de Cause Rares, CHU, Rennes, France., Pérez-Jurado LA; Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Madrid, Spain; Servicio de Genética, Hospital del Mar Research Institute (IMIM), Barcelona, Spain; Department of Medicine and Life Sciences, Universitat Pompeu Fabra, Barcelona, Spain. Electronic address: luis.perez@upf.edu. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2475-2486. Date of Electronic Publication: 2022 Oct 04. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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