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Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome.
Narumi-Kishimoto, Yoko; Araki, Naomi; Migita, Ohsuke; Kawai, Tomoko; Okamura, Kohji; Nakabayashi, Kazuhiko; Kaname, Tadashi; Ozawa, Yuri; Ozawa, Hiroshi; Takada, Fumio; Hata, Kenichiro.
Afiliación
  • Narumi-Kishimoto Y; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; Medical Genome Center, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Medical Genetics, Kitasato University, Sagamihara, Japan; Department of N
  • Araki N; Department of Medical Genetics, Kitasato University, Sagamihara, Japan.
  • Migita O; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan; Department of Pediatrics, St. Marianna University School of Medicine, Kawasaki, Japan.
  • Kawai T; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Okamura K; Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Nakabayashi K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Kaname T; Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
  • Ozawa Y; Department of Neuro-pediatrics, Shimada Ryouiku Center Hachiouji, Tokyo, Japan.
  • Ozawa H; Department of Neuro-pediatrics, Shimada Ryouiku Center Hachiouji, Tokyo, Japan.
  • Takada F; Department of Medical Genetics, Kitasato University, Sagamihara, Japan.
  • Hata K; Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan.
Eur J Med Genet ; 62(9): 103547, 2019 Sep.
Article en En | MEDLINE | ID: mdl-30267900
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Deformidades Congénitas de la Mano / Anomalías Craneofaciales / Trastorno del Espectro Autista / Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Represoras / Deformidades Congénitas de la Mano / Anomalías Craneofaciales / Trastorno del Espectro Autista / Discapacidad Intelectual / Mutación Tipo de estudio: Prognostic_studies Límite: Adolescent / Female / Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article Pais de publicación: Países Bajos