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Heterozygous Mutations in MAP3K7, Encoding TGF-ß-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
Le Goff, Carine; Rogers, Curtis; Le Goff, Wilfried; Pinto, Graziella; Bonnet, Damien; Chrabieh, Maya; Alibeu, Olivier; Nistchke, Patrick; Munnich, Arnold; Picard, Capucine; Cormier-Daire, Valérie.
  • Le Goff C; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, 75015 Pa
  • Rogers C; Greenwood Genetic Center Greenville Office, 14 Edgewood Drive, Greenville, SC 29605, USA.
  • Le Goff W; Sorbonne Universités, UPMC Univ. Paris 06, INSERM, ICAN, Institute of Cardiometabolism and Nutrition (UMR_S1166), Integrative Biology of Atherosclerosis Team, 91 Boulevard de l'Hôpital, 75013 Paris, France.
  • Pinto G; Pediatric Endocrinology, Gynecology and Diabetes, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France.
  • Bonnet D; Centre de Référence Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Universitaire Necker-Enfants Malades, Université Paris Descartes, 75015 Paris, France.
  • Chrabieh M; Necker Branch, Laboratory of Human Genetics of Infectious Diseases, UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France.
  • Alibeu O; Genomic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
  • Nistchke P; Bioinformatic Platform, INSERM UMR 1163, Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France.
  • Munnich A; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, 75015 Pa
  • Picard C; Necker Branch, Laboratory of Human Genetics of Infectious Diseases, UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, Hôpital Necker-Enfants Malades, 75015 Paris, France; Pediatric Hematology-Immunology-Rheumatology Unit, AP-HP, Hôpital Universitaire Necker-Enfants Malades
  • Cormier-Daire V; Department of Medical Genetics, Reference Center for Skeletal Dysplasia, INSERM UMR 1163, Laboratory of Molecular and Physiopathological Bases of Osteochondrodysplasia, Paris Descartes-Sorbonne Paris Cité University, AP-HP, Institut Imagine, and Hôpital Universitaire Necker-Enfants Malades, 75015 Pa
Am J Hum Genet ; 99(2): 407-13, 2016 08 04.
Article en En | MEDLINE | ID: mdl-27426734
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Huesos Tarsianos / Huesos del Carpo / Vértebras Cervicales / Quinasas Quinasa Quinasa PAM / Pérdida Auditiva Conductiva / Heterocigoto / Insuficiencia de la Válvula Mitral / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Huesos Tarsianos / Huesos del Carpo / Vértebras Cervicales / Quinasas Quinasa Quinasa PAM / Pérdida Auditiva Conductiva / Heterocigoto / Insuficiencia de la Válvula Mitral / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article