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Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto, Yumi; Yokoi, Takayuki; Tsurusaki, Yoshinori; Murakami, Hiroaki; Tominaga, Makiko; Minatogawa, Mari; Abe-Hatano, Chihiro; Kuroda, Yukiko; Ohashi, Ikuko; Ida, Kazumi; Shiiya, Shizuka; Kumaki, Tatsuro; Naruto, Takuya; Mitsui, Jun; Harada, Noriaki; Kido, Yasuhiro; Kurosawa, Kenji.
Afiliação
  • Enomoto Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Yokoi T; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tsurusaki Y; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Murakami H; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Tominaga M; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Minatogawa M; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Abe-Hatano C; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Kuroda Y; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Ohashi I; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Ida K; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Shiiya S; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Kumaki T; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Naruto T; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Mitsui J; Department of Neurology, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
  • Harada N; Department of Clinical Laboratory, Kanagawa Children's Medical Center, Yokohama, Japan.
  • Kido Y; Department of Pediatrics, Saitama Medical Center, Dokkyo Medical University, Koshigaya, Japan.
  • Kurosawa K; Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan.
Clin Genet ; 101(3): 335-345, 2022 03.
Article em En | MEDLINE | ID: mdl-34958122
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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 Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
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 Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão