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Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh, Quentin; Tharreau, Mylène; Cenni, Camille; Sanchez, Elodie; Ruiz-Pallares, Nathalie; Alkar, Fanny; Amouroux, Cyril; David, Stéphanie; Prodhomme, Olivier; Leboucq, Nicolas; Meunier, Isabelle; Bessis, Didier; Theron, Alexandre; Barat-Houari, Mouna; Willems, Marjolaine.
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  • Sabbagh Q; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Tharreau M; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Cenni C; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Sanchez E; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Ruiz-Pallares N; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Alkar F; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Amouroux C; Montpellier University, Pediatric Endocrinology and Nephrology Unit, Rare Diseases Competence Center for Bone Mineral Disease and Skeletal Dysplasia, OSCAR Network, Montpellier University Hospital, Montpellier, France.
  • David S; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Prodhomme O; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Leboucq N; Montpellier University, Département d'Imagerie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Meunier I; Montpellier University, Département dOphtalmologie, Centre de Référence Maladies Sensorielles Génétiques, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Bessis D; Montpellier University, Département de Dermatologie, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Theron A; Montpellier University, Service d'Onco-hématologie Pédiatrique, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Barat-Houari M; Montpellier University, Department of Molecular Genetics and Cytogenomics, Rare and Autoinflammatory Diseases Unit, Centre Hospitalier Universitaire de Montpellier, Montpellier, France.
  • Willems M; Montpellier University, Service de Génétique Clinique, Centre de Compétence Maladies Osseuses Constitutionnelles, Centre Hospitalier Universitaire de Montpellier, Montpellier, France; Montpellier University, Institute for Neurosciences of Montpellier, INSERM, Montpellier, France. Electronic address:
Eur J Med Genet ; 66(5): 104733, 2023 May.
Article en En | MEDLINE | ID: mdl-36842471
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo / Microcefalia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Enanismo / Microcefalia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Female / Humans Idioma: En Año: 2023 Tipo del documento: Article