Your browser doesn't support javascript.
loading
A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation.
Tokaji, Narumi; Ito, Hiromichi; Kohmoto, Tomohiro; Naruto, Takuya; Takahashi, Rizu; Goji, Aya; Mori, Tatsuo; Toda, Yoshihiro; Saito, Masako; Tange, Shoichiro; Masuda, Kiyoshi; Kagami, Shoji; Imoto, Issei.
Afiliação
  • Tokaji N; Departmentof Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Ito H; Departmentof Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Kohmoto T; Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Naruto T; Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Takahashi R; Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Goji A; Departmentof Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Mori T; Departmentof Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Toda Y; Departmentof Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Saito M; Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Tange S; Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Masuda K; Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Kagami S; Departmentof Paediatrics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
  • Imoto I; Department of Human Genetics, Graduate School of Biomedical Sciences, Tokushima University, Tokushima, Japan.
Am J Med Genet A ; 176(3): 699-702, 2018 03.
Article em En | MEDLINE | ID: mdl-29341476
Assuntos
Palavras-chave
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Rett / Éxons / Proteína 2 de Ligação a Metil-CpG / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA 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: Fenótipo / Síndrome de Rett / Éxons / Proteína 2 de Ligação a Metil-CpG / Mutação Tipo de estudo: Prognostic_studies Limite: Child, preschool / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Japão