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Two patients with MIRAGE syndrome lacking haematological features: role of somatic second-site reversion SAMD9 mutations.
Shima, Hirohito; Koehler, Katrin; Nomura, Yumiko; Sugimoto, Kazuhiko; Satoh, Akira; Ogata, Tsutomu; Fukami, Maki; Jühlen, Ramona; Schuelke, Markus; Mohnike, Klaus; Huebner, Angela; Narumi, Satoshi.
Afiliação
  • Shima H; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan.
  • Koehler K; Klinik und Poliklinik für Kinder-und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Nomura Y; Department of Pediatrics, Hirosaki National Hospital, Hirosaki, Japan.
  • Sugimoto K; Department of Pediatrics, Hirosaki National Hospital, Hirosaki, Japan.
  • Satoh A; Department of Pediatrics, Hirosaki National Hospital, Hirosaki, Japan.
  • Ogata T; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Fukami M; Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan.
  • Jühlen R; Klinik und Poliklinik für Kinder-und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Schuelke M; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Berlin, Germany.
  • Mohnike K; Divisioin of Pediatric Endocrinology and Metabolism, Department of Pediatrics, Otto-von-Guericke, Otto-von-Guericke Universität Magdeburg, Magdeburg, Germany.
  • Huebner A; Klinik und Poliklinik für Kinder-und Jugendmedizin, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.
  • Narumi S; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Setagaya, Tokyo, Japan.
J Med Genet ; 55(2): 81-85, 2018 02.
Article em En | MEDLINE | ID: mdl-29175836
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Proteínas Limite: Child, preschool / Humans / Infant Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Síndromes Mielodisplásicas / Proteínas Limite: Child, preschool / Humans / Infant Idioma: En Revista: J Med Genet Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão