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SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients.
Mouillé, M; Rio, M; Breton, S; Piketty, M L; Afenjar, A; Amiel, J; Capri, Y; Goldenberg, A; Francannet, C; Michot, C; Mignot, C; Perrin, L; Quelin, C; Van Gils, J; Barcia, G; Pingault, V; Maruani, G; Koumakis, E; Cormier-Daire, V.
Afiliação
  • Mouillé M; Clinical Genetics, Necker Enfants Malades Hospital, APHP, 149 rue de Sevres, Paris, 75015, France.
  • Rio M; Department of Neonatal Medicine, Cochin-Port Royal Hospital, APHP, Paris, France.
  • Breton S; Clinical Genetics, Necker Enfants Malades Hospital, APHP, 149 rue de Sevres, Paris, 75015, France.
  • Piketty ML; Department of Pediatric Radiology, Necker Enfants Malades Hospital, APHP, Paris, France.
  • Afenjar A; Functional Exploration Laboratory, Necker Enfants Malades Hospital, APHP, Paris, France.
  • Amiel J; Sorbonne University, Reference Center for Intellectual Disabilities, Department of Genetics and Medical Embryology, Armand-Trousseau Hospital, APHP, Paris, France.
  • Capri Y; Clinical Genetics, Necker Enfants Malades Hospital, APHP, 149 rue de Sevres, Paris, 75015, France.
  • Goldenberg A; Clinical Genetics Functional Unit, Robert Debré Hospital, APHP, Paris, France.
  • Francannet C; Department of Clinical Genetics, Rouen, France.
  • Michot C; Clinical Genetics, Clermont-Ferrand CHU, Clermont-Ferrand, France.
  • Mignot C; Clinical Genetics, Necker Enfants Malades Hospital, APHP, 149 rue de Sevres, Paris, 75015, France.
  • Perrin L; Paris Cité University, Reference Center for Constitutional Bone Diseases, INSERM UMR1163, Imagine Institute, Paris, France.
  • Quelin C; Sorbonne University, Reference Center for Intellectual Disabilities, Department of Genetics and Medical Embryology, Armand-Trousseau Hospital, APHP, Paris, France.
  • Van Gils J; Clinical Genetics, La Pitié Salpétrière Hospital, APHP, Paris, France.
  • Barcia G; Clinical Genetics Functional Unit, Robert Debré Hospital, APHP, Paris, France.
  • Pingault V; Clinical Genetics, Hospital Sud, Rennes, France.
  • Maruani G; Clinical Genetics, Hospital Pellegrin, Bordeaux, France.
  • Koumakis E; Molecular Genetics, Necker Enfants Malades Hospital, APHP, Paris, France.
  • Cormier-Daire V; Molecular Genetics, Necker Enfants Malades Hospital, APHP, Paris, France.
Orphanet J Rare Dis ; 17(1): 100, 2022 03 03.
Article em En | MEDLINE | ID: mdl-35241104
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Fraturas da Coluna Vertebral / Proteínas de Ligação à Região de Interação com a Matriz / Fraturas por Compressão Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fatores de Transcrição / Fraturas da Coluna Vertebral / Proteínas de Ligação à Região de Interação com a Matriz / Fraturas por Compressão Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2022 Tipo de documento: Article