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A unique TBX5 microdeletion with microinsertion detected in patient with Holt-Oram syndrome.
Morine, Mikio; Kohmoto, Tomohiro; Masuda, Kiyoshi; Inagaki, Hidehito; Watanabe, Miki; Naruto, Takuya; Kurahashi, Hiroki; Maeda, Kazuhisa; Imoto, Issei.
Afiliación
  • Morine M; General Perinatal Medical Center, Shikoku Medical Center for Children and Adults, Zentsuji, Japan.
  • Kohmoto T; Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Masuda K; Student Lab, Tokushima University Faculty of Medicine, Tokushima, Japan.
  • Inagaki H; Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Watanabe M; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
  • Naruto T; Department of Human Genetics, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Kurahashi H; Student Lab, Tokushima University Faculty of Medicine, Tokushima, Japan.
  • Maeda K; Department of Stress Science, Institute of Biomedical Sciences, Tokushima University Graduate School, Tokushima, Japan.
  • Imoto I; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University, Toyoake, Japan.
Am J Med Genet A ; 167A(12): 3192-6, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26780237

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Mutagénesis Insercional / Eliminación de Gen / Proteínas de Dominio T Box / Deformidades Congénitas de las Extremidades Inferiores / Deformidades Congénitas de las Extremidades Superiores / Cardiopatías Congénitas / Defectos del Tabique Interatrial Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Japón

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Anomalías Múltiples / Mutagénesis Insercional / Eliminación de Gen / Proteínas de Dominio T Box / Deformidades Congénitas de las Extremidades Inferiores / Deformidades Congénitas de las Extremidades Superiores / Cardiopatías Congénitas / Defectos del Tabique Interatrial Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Japón