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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.
Shimojima, Keiko; Narai, Satoshi; Togawa, Masami; Doumoto, Tomotsune; Sangu, Noriko; Vanakker, Olivier M; de Paepe, Anne; Edwards, Matthew; Whitehall, John; Brescianini, Sally; Petit, Florence; Andrieux, Joris; Yamamoto, Toshiyuki.
Afiliación
  • Shimojima K; Precursory Research for Embryonic Science and Technology (PRESTO), Japan Science and Technology Agency (JST), Kawaguchi, Japan; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan.
  • Narai S; Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.
  • Togawa M; Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.
  • Doumoto T; Department of Pediatrics, Tottori Prefectural Central Hospital, Tottori, Japan.
  • Sangu N; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan; Department of Oral and Maxillofacial Surgery, Tokyo Women's Medical University, Tokyo, Japan.
  • Vanakker OM; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • de Paepe A; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Edwards M; Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.
  • Whitehall J; Department of Paediatrics, School of Medicine, University of Western Sydney, New South Wales, Australia.
  • Brescianini S; Centre for Genetic Education, University of Sydney, New South Wales, Australia.
  • Petit F; CHU Lille, Hopital Jeanne de Flandre, Service de Genetique Clinique, F-59000 Lille, France.
  • Andrieux J; CHU Lille, Hopital Jeanne de Flandre, Laboratoire de Genetique Medicale, F-59000 Lille, France.
  • Yamamoto T; Tokyo Women's Medical University Institute for Integrated Medical Sciences, Tokyo, Japan. Electronic address: yamamoto.toshiyuki@twmu.ac.jp.
Eur J Med Genet ; 59(10): 502-6, 2016 Oct.
Article en En | MEDLINE | ID: mdl-27633570
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Actinas / Enanismo / Microcefalia Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Actinas / Enanismo / Microcefalia Tipo de estudio: Risk_factors_studies Límite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Países Bajos