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FOSL2 truncating variants in the last exon cause a neurodevelopmental disorder with scalp and enamel defects.
Cospain, Auriane; Rivera-Barahona, Ana; Dumontet, Erwan; Gener, Blanca; Bailleul-Forestier, Isabelle; Meyts, Isabelle; Jouret, Guillaume; Isidor, Bertrand; Brewer, Carole; Wuyts, Wim; Moens, Leen; Delafontaine, Selket; Keung Lam, Wayne Wing; Van Den Bogaert, Kris; Boogaerts, Anneleen; Scalais, Emmanuel; Besnard, Thomas; Cogne, Benjamin; Guissard, Christophe; Rollier, Paul; Carre, Wilfrid; Bouvet, Regis; Tarte, Karin; Gómez-Carmona, Ricardo; Lapunzina, Pablo; Odent, Sylvie; Faoucher, Marie; Dubourg, Christele; Ruiz-Pérez, Víctor L; Devriendt, Koen; Pasquier, Laurent; Pérez-Jurado, Luis A.
Affiliation
  • 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.
Genet Med ; 24(12): 2475-2486, 2022 12.
Article in En | MEDLINE | ID: mdl-36197437
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Full text: 1 Database: MEDLINE Main subject: Ectodermal Dysplasia / Neurodevelopmental Disorders / Autism Spectrum Disorder Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article
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Full text: 1 Database: MEDLINE Main subject: Ectodermal Dysplasia / Neurodevelopmental Disorders / Autism Spectrum Disorder Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2022 Type: Article