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Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui, Varoona; Michot, Caroline; Baujat, Geneviève; Amouroux, Cyril; Baron, Sabine; Capri, Yline; Cohen-Solal, Martine; Collet, Corinne; Dieux, Anne; Geneviève, David; Isidor, Bertrand; Monnot, Sophie; Rossi, Massimiliano; Rothenbuhler, Anya; Schaefer, Elise; Cormier-Daire, Valérie.
Afiliación
  • Bizaoui V; Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.
  • Michot C; Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.
  • Baujat G; Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.
  • Amouroux C; Department of Paediatric Endocrinology, Arnaud de Villeneuve Hospital, Montpellier, France.
  • Baron S; Service de Génétique Médicale, CHU de Nantes, Nantes, France.
  • Capri Y; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, France.
  • Cohen-Solal M; Department of Rheumatology, Lariboisière Hospital, INSERM U1132 and University Paris-Diderot, Paris, France.
  • Collet C; Department of Biochemistry, APHP, Saint-Louis Lariboisière Hospitals, Paris, France.
  • Dieux A; Centre de Référence CLAD NdF, Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHU Lille, France.
  • Geneviève D; Service de Génétique Clinique et du Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Compétence Maladies Osseuses Constitutionnelles, Inserm U1183, Université Montpellier, Montpellier, France.
  • Isidor B; Service de Génétique Médicale, CHU de Nantes, Nantes, France.
  • Monnot S; Department of Medical Genetics, Reference Center for Skeletal Dysplasia and OSCAR Network, Paris Descartes-Sorbonne Paris Cité University, INSERM UMR 1163, Instititut Imagine, Hôpital Necker Enfants Malades, Paris, France.
  • Rossi M; Hospices Civils de Lyon, Service de Génétique, Centre de Référence Anomalies du Développement, Bron, France.
  • Rothenbuhler A; Centre de Recherche en Neurosciences de Lyon, INSERM U1028, CNRS UMR5292, UCB Lyon 1, Lyon, France.
  • Schaefer E; Department of Paediatric Endocrinology, Bicêtre Hospital, Paris, France.
  • Cormier-Daire V; Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Clin Genet ; 96(4): 309-316, 2019 10.
Article en En | MEDLINE | ID: mdl-31237352
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Picnodisostosis Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Dinamarca
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Picnodisostosis Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies / Systematic_reviews Límite: Female / Humans / Male Idioma: En Revista: Clin Genet Año: 2019 Tipo del documento: Article País de afiliación: Francia Pais de publicación: Dinamarca