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The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.
Nishi, Eriko; Takenouchi, Toshiki; Miya, Fuyuki; Uehara, Tomoko; Yanagi, Kumiko; Hasegawa, Yuiko; Ueda, Kimiko; Mizuno, Seiji; Kaname, Tadashi; Kosaki, Kenjiro; Okamoto, Nobuhiko.
Afiliação
  • Nishi E; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Takenouchi T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Miya F; Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
  • Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Yanagi K; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Hasegawa Y; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Ueda K; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Mizuno S; Department of Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Japan.
  • Kaname T; Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Am J Med Genet A ; 188(2): 446-453, 2022 02.
Article em En | MEDLINE | ID: mdl-34652060
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão